Term
| A 4 yo girl is noticed by her grandmother to have a limp and a somewhat swollen left knee. The parents report that the patient occasionally complains of pain in that knee. A optho exam reveals uveitis. What is the condition? |
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Definition
| Juvenile rheumatoid arthritis (Q4) |
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Term
| A 2 yo presents to the office with a paternal complain of "bowlegs" The girl has always had bowlegs but now it seems to be worsening. Her weight is greater than 95% and she has significant bowing out of her legs and internal tibial torsion; otherwise, her exam is normal. What is the most likely diagnosis? |
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Definition
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Term
| The father of a 14 yo mild MR child says he found the child about 20 minutes ago in the neighbor's garden shed with an unknown substance in his mouth. THe child first had a headache, but then became agitated and confused; while you are talking to the father in the ER the child begins to have a seizure and dysrhythmia on the cardiac monitor. The blood gas demonstrates a severe metabolic acidosis. What is the most likely culprit? |
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Definition
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Term
| When does neonatal acne peak? |
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Definition
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Term
| A 2 year old and 3 month old sibling have a 4 day history of a rash limited to feet and ankles, papular rash that is both pruitic and erythematous. What is the culprint and what is the appropriate treatment? |
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Definition
| Scabies, permethrin (Q19) |
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Term
| A 2 yo boy has been vomiting intermittnetly for 3 weeks and has been irritable, listless, and anorectic. His use of language has regressed to speaking single words. In your evaluation of this patient, which of the following is the most reasonable diagnosis to consider? |
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Definition
Tuberculous meningitis (Q29)
Most likely cause to linger for 3 weeks (opposed to other infectious causes or an epidural hematoma). |
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Term
| You find a discrete whitish polyp that extends through the tympanic membrane in a child with a history of recurrent otitis media. What is the most likely diagnosis? |
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Definition
| Cholesteatoma is a small sac lined with epithelium-containing debris (Q30). It can present in children with recurrent otitis media or in the face of a chronically draining ear. THe mass can grow aggressively, leading to CNS complications like facial nerve damage, hearing loss, and intercranial extension. |
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Term
| 3 yo is found to be lethargic, have miosis, bradycardia, and hypotension. He develops apnea and respiratory depression and has to be intubated. What would be the therapy? |
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Definition
| PICU support and a trial of naloxone- Possible clonidine overdose. Becoming more commonplace for adults with HTN and children for ADHD and tic disorders (Q37) |
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Term
| A mentally retarded 14 year old boy has a long face, large ears, micropenis, and large testes. Chromosome analysis is likely to demonstrate what? |
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Definition
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Term
| A 1 week old child's mother complains that the child has a transient rash that has splotchy areas of erythema with a central clear pustule. Your microscopic examination of the liquid in the pustule reveals eosinophils |
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Definition
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Term
| An adolescent boy complains of a splotchy red rash on the nape of his neck, discovered when he had his head shaved for football season. The rash seems to become more prominent with exercise or emotion. His mother notes that he has had the rash since infancy, but that it became invisible as hair grew. He had a similar rash on his eyelids that resolved in the newborn period. |
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Definition
| Salmon patch (Q44) aka nevus flameus or simplex. No therapy indicated |
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Term
| A nurse calls you to evaluate an African American newborn whom she thinks has a bacterial skin infection. The areas in question have many scattered pustules full of a milky fluid. Upon examining pustules, they easily wipe away, revealing a small hyperpigmented macule. |
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Definition
| Pustular melanosis (Q45) More common in blacks than in whites, self limiting. The pustular stage of these lesions occur during the first few days of life, with the hyperpigmented stage lasting for weeks to months. |
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Term
| The obstetrical resident on call asks you to evaluate an area of a newborn's scalp that seems to have no hair and is scaly and yellowish. |
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Definition
| Sebaceous nevus (Q46) Nevus of Jadassohn are small sharply edged lesions that occur most commonly on the head and neck. They usually are hairless. Malignant degeneration is possible, most commonly after adolescence. |
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Term
| A newborn's mother complains that her infant seems to have very small white dots all over his nose. The dots do not wipe off with bathing, but they are also not erythematous. |
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Definition
| Milia (Q47) They are cysts that contain keratinized material. When on the palate, they are called Epstein pearns. |
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Term
| A newborn's father complains that his son has dandruff, with many waxy flakes of skin on the scalp. When he scrapes the lesions, hair often comes off with the flakes of skin. In addition, the baby has flaking of the eyebrows. |
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Definition
| Seborrheic dermatitis (Q48) Can begin anytime during life and frequently presents as cradle cap in the newborn period. They can involve the face, neck, axilla, and diaper area. Pruritus can be marked. |
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Term
| 3 yo wakes up every night around 2 am screaming incoherently. His parents note that he is agitated, seems awake, but unresponsive and goes back to sleep within a few minutes. He has no memory of the episodes in the morning. |
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Definition
| Night terrors (Q49) aka pavor nocturnus are non-REM phenomena seen less commonly than nightmares. The child is described as apparently awake but unresponsive; they can have evidence of autonomic arousal such as tachycardia, sweating, and tachypnea, and appear frightened and agitated. Attempts at calming the child are usually not effective. |
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Term
| A 15 month old toddler continues to wake up crying every night. Her parents give her a nightmare bottle, rock her, and sing to her to help her go back to sleep. Her parents are exhausted and ask you if she is having bad dreams. What is she experiencing? |
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Definition
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Term
| Parents hear their 5 years old girl regularly calling out during the night. When the parents check on her, she is sleeping comfortably and is in no apparent distress. |
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Definition
| Somniloquy (Q51) sleeptalking can occur at any sleep stage and is seen in all ages. |
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Term
| A 4 yo boy occasionally wakes in the middle of the night crying. When his parents check on him, he seems visibly frightened and tells his parents that Chihuahuas were chasing him. |
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Definition
| Nightmares (Q52) Scary or disturbing dream that usually awakens the child and causes agitation about the content of the dream, happens during REM sleep. |
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Term
| A 5 year old child refuses to sleep in his bed, claiming there are monsters in his closet and that he has bad dreams. The parents allow him to sleep with them in their bed to avoid the otherwise inevitable screaming fit. The parents note that the child sleeps soundly, waking only at sunrise. |
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Definition
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Term
| A 6 yo returns from playing all day in the snow with several erythematous, ulcerative lesions on his fingertips, he complains the lesions are painful and itchy. |
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Definition
| Chillblain (Q54) Small ulcerated lesions on exposed areas such as the ears and fingers. Lesions may last 1-2 weeks. |
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Term
| A teen, just back from a skiing trip, has blistering and peeling of several areas on her face; she reports the lesions started as firm, cold, white areas that felt stinging at the time and are now more sensitive than the surround skin. |
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Definition
| Frostnip (Q55) Small firm white coldpatches of skin or exposed areas. Treatment is rewarming the areas before they get numb. |
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Term
| A 9 year old girl presents during summer break with an area of erythematous, firm, and slightly swollen skin at the corner of her mouth and extending to her cheek. The area is not tender. |
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Definition
| Cold panniculitis (Q56) Destruction of fat cells caused by exposure to cold weather or cold objects. Usually benign and self-resolves. |
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Term
| A 14 yo on a mountain climbing expedition in December becomes tired, clumsy, and begins to hallucinate. His heart rate is 45 bpm. |
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Definition
| Hypothermia (Q57) As the core temperature drops, the individual becomes lethargic, tired, uncoordinated, apathetic, mentally confused, irritable, and bradycardic. |
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Term
| A skier recently rescued from a snowbank, following an avalanche complains about his feet. Upon rescue, they were whitish yellow and numb, but now they are blotchy and painful. |
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Definition
| Frostbite (Q58) Initial stinging, followed by aching, culminating in numb areas. Once rewarmed, the area becomes red, blotchy, and painful. Gangrene may develop. |
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Term
| Megaloblastic anemia, growth failure, paresthesias, sensory defects, developmental regression, weakness, fatigue |
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Definition
| Vitamin B12 deficiency (Q59) Unusual, but can be seen in those ingesting a strict vegetarian diet or in a breast-fed baby whose mother has undiagnosed pernicious anemia or other cobalamin-malabsorption syndromes, or in a child with pernicious anemia. Neurologic symptoms in a child include weakness, FTT, irritability, fatigue, sensory defect, delayed or loss of milestones, seizures, and neuropsychiatric changes. |
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Term
| Photophobia, blurred vision, burning and itching of eyes, poor growth, cheilsosis |
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Definition
| Riboflavin deficiency (Q60) Rare is isolation but can other with other B-complex deficiencies. It occurs because of poor intake, reduced absorption in patients with biliary atresia or hepatitis, or poor absorption in those receiving probenecid, phenothiazine, or oral contraceptives. Signs and symptoms include cheilosis, glossitis, a variety of ocular prolems, and seborrheic dermatitis. |
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Term
| Irritability, convulsions, hypochromic anemia |
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Definition
| Vitamin B6 deficiency (Q61) aka pyridoxine occurs in patients with low levels in diet, vitamin B6 dependent syndrome where the enzyme structure problems result in poor absorption, or a result of vitamin inhibition 2/2 drugs like isoniazid, penicillamine, corticosteroids, and anticonvulsants. Seizures, peripheral neuritis, dermatitis, and microcytic anemia are commonly seen. |
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Term
| Megaloblastic anemia, glossitis, pharyngeal ulcers, impaired immunity |
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Definition
| Folate deficiency (Q62) etiologies include poor intake or absorption, high demand diseases like sickle cell, in inborn errors of metabolism. Can also ben seen in use of high dose NSAIDs, MTX, and dilantin. Produces megaloblastic anemia, glossitis, pharyngeal ulcers, and impaired immunity. |
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Term
| What vitamin deficiency leads to beri beri? |
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Definition
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Term
| What vitamin deficiency leads to pellagra? |
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Definition
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Term
| What vitamin deficiency leads to dermatitis/seborrhea? |
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Definition
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Term
| A newborn infant is noted to have microcephaly with sloping forehead, cutis aplasia on the scalp, microphthalmia, and cleft lip and palate. His echo demonstrates a complex heart lesion including ASD, VSD, and dextrocardia. |
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Definition
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Term
| A 17 yo boy has an unusual gait, large mouth with tongue protrusion, hypopigmentation with blond hair and pale blue eyes, and unprovoked bursts of laughter. |
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Definition
| Angelman's syndrome (Q64) It is caused by an interstitial deletion of chromosome 15q1-q13, the deleted material always comes from the maternal side (the same deleted segment from the paternal side results in Prader-Willi) |
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Term
| A 3 day old infant who was found at birth to have anal atresia also has vertebral defects, a VSD, tracheoesophageal fistula, absent left kidney, and shortened arms. |
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Definition
| VACTERL syndrome (Q66) Intelligence is normal |
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Term
| An afebrile, obese 14 yo boy has developed pain at the right knee and a limp |
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Definition
| Slipped capital femoral epiphysis (SCFE) (Q67) |
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Term
| A 6-year-old boy has developed a limp and has limited mobility of the hip, but denies pain and fever |
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Definition
| Legg-Calve-Perthes disease (Q68) Avascular necrosis or idiopathic osteonecrosis of the femoral head; Boys between 2 and 12 are most frequently affected. |
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Term
| A 2 yo refuses to walk, has fever, has significant pain with external rotation of the right leg, and has an elevated WBC count. |
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Definition
| Septic arthritis of the hip (Q69) |
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Term
| A 3 yo refuses to walk, is afebrile, had an URI a week ago, has right hip pain with movement, and has a normal WBC count. |
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Definition
| Transient synovitis (Q70) |
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Term
| Bushy eyebrows, hirsutism, limb defects, VSD, and mental retardation. |
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Definition
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Term
| Over the past several weeks, a 2 yo girl exhibited developmental regression, abnormal sleep patterns, anorexia, irritability and decreased activity. These symptoms have progressed to acute encephalopathy with vomiting, ataxia, and variable consciousness. The family recently move and they are in the process of restoring the interior of their home. |
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Definition
| Lead poisoning, treat with DMSA, succimer (Dimercaptosuccinic acid) Q71 |
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Term
| After a fight with her bf, a 16 yo girl took some pills. At presentation, she is alert and complains of emesis, diaphoresis, and malaise. Her initial LFTS, obtained 12 hours post ingestion, are elevated. Repeat levels at 24 hours show a markedly elevated AST and ALT, along with abnormal coagulation studies and an elevated bilirubin. |
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Definition
| Acetaminophen intoxication, treat with N-acetylcystein (Mucomyst) Q72 |
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Term
| You are called to the delivery room. A newborn infant seems lethargic and has poor tone with only marginal respiratory effort but his HR is above 100 bpm. The mother had an uncomplicated px, and delivery was uncomplicated and vaginal 10 minutes after spontaneous ROM. THe mother received only pain medications while in labor. |
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Definition
| Morphine and other narcotics. Treat with Naloxone Q73 |
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Term
| A 4 yo girl comes into the ER after eating a bottleful of small chewable pills she found at her grandfather's house. She has an increased RR, elevated temperature, vomiting, and is disoriented. She is intermittently complaining that a bell is ringing in her ears, she has a metabolic acidosis on ABG. |
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Definition
| Aspirin intoxication, treat with sodium bicarbonate Q74. Hyper or hypoglycemia, paradoxical aciduria, dehydration and lethargy are hallmarks. |
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Term
| After helping his father in the yard, a 14 yo boy complains of weakness and feels like his muscles are twitching. He begins to drool, and then collapses in a generalized tonic-clonic seizure. Upon the arrival of EMS, his R is 40 bpm and pupils are pinpoint. |
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Definition
| Organophosphate poisoning, treat with atropine and pralidoxime (Q75) |
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Term
| A 14 yo male presents after taking a "happy pill" that his friend gave him. He is alert and oriented, but complains of a muscle spasm in his neck, making his head lean on his right shoulder. You also notice he is arching his back in an unusual manner. |
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Definition
| Phenothiazine. Treat with Diphenhydramine (Benadryl) Q76. Phenothiazine can cause idiosyncratic reaction causing extrapyramidal symptoms such as oculogyric crisis, tremors, opisthotonus, and dysphagia. |
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Term
| A 2 yo boy found a bottle of his mother's prenatal vitamins and consumed the majority of them. He now has hematemesis and abdominal pain. He is febrile and lab tests reveal a leukocytosis and hyperglycemia. |
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Definition
| Iron poisoning, treat with Deferoxamine mesylate (Q77) |
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Term
| A 17 yo boy is brought into the ED by his friends after drinking some homemade alcohol. He is disoriented and confused, has an anion-gap acidosis. He begins to have seizures. |
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Definition
| Methanol poisoning, treat with ethanol (Q78) |
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Term
| A 4 yo with diarrhea, abdominal pain and kidney stones which prove to be caused by calcium oxalate. |
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Definition
| Vitamin C intoxication (Q81) |
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Term
| A 6 yo who has developed ataxia and sensory neuropathy (vitamin excess) |
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Definition
| Pyridoxine intoxication (Q83) sensory neuropathy with altered sensation of touch, pain and fever. |
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Term
| After getting into his mother's bottle of vitamins, a 3 year old has burning, tingling, and itching on his arms as well as a reddened face, arms, and chest. |
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Definition
| Nicotinic acid (Q80) A vasodilator. Long term use causes tachycardia, liver damage, hyperglycemia, and hyperuricemia. |
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Term
| An irritable 8 yo child with headache, vomiting, alopecia, dry/itchy skin with desquamation of the palms and soles, hepatosplenomegaly, and swelling of the bones. (vitamin excess) |
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Definition
| Vitamin A excess (Q79) Slows normal growth, causes excess bone growth (hyperostosis), hepatomegaly, increased CSF pressure, and drying of skin. |
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Term
| A 2 yo presents with N/V, poor feeding, abdominal pain, and constipation. Found to have decreased QT interval. He has calcifications on his kidneys noted on CT. |
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Definition
| Vitamin D excess (Q82) Prolonged excessive vitamin D can cause nausea, diarrhea, weight loss, polyuria, and soft tissue calcification of heart, kidney, blood vessels, bronchi, and stomach. |
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Term
| A 15 yo with severe acne on an oral preparation of retinoic acid may lead to what birth defect? |
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Definition
| Bilateral microtia or an otia (Q84) Also associated with fetal death, hydrocephalus, CNS defects, small or missing thymus, conotruncal heart defect and micrognathia. |
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Term
| Fetus of a woman without prenatal care has a diet low in green vegetables and enriched grain products. |
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Definition
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Term
| Fetus of a woman with long-standing HTN treated with ACEi. |
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Definition
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Term
| Fetus of a primiparous mother late in her first trimester with fever and "3-day" measles |
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Definition
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Term
| A 23 pregnant woman with manic depressive disorder has a poor prenatal care and was maintained on lithium. |
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Definition
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Term
| An 18 yo friend of the family returns from spring break from a coastal town in Central America. He has an intensely pruitic lesion on his foot. The lesion is raised, red, serpiginous, and has a few associated bullae. |
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Definition
| Cutaneous larva migrans. Treat with Ivermectin (Q89) |
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Term
| A 2 wk old boy is brought by his mother to the clinic. He has scaly, yellow patches on his scalp with associated hair loss. |
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Definition
| Seborrheic dermatitis. Topical steroids or a selenium sulfide containing product (Q90) |
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Term
| A 4 month old presents with a dry scaly rash on his cheeks, arms, and upper chest. His 10 yo sister had a similar rash when she was young, but the rash is now confined to her antecubital and popliteal fossa; her rash worsens in winter months. |
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Definition
| Atopic dermatitis, treat with mild cleansing cream, topical moisturizers, and topical steroids (Q92) |
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Term
| A 3 day old infant was born to a mother with active systemic lupus erythematosus. What clinical condition is associated with SLE? |
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Definition
| Heart block (Q95) Neonatal lupus can be responsible for a variety of problems in the newborn including rashes, thrombocytopenia, and congenital heart block. |
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Term
| What additional vitamin does a pregnant teenager on isoniazid need? |
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Definition
| Isoniazid therapy can cause peripheral neuritis as a result of competitive inhibition of pyridoxine metabolism.Pyridoxine (Q96) |
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Term
| What additional vitamin does someone on phenytoin need? |
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Definition
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Term
| What additional vitamin does someone with liver disease need? |
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Definition
| All fat-soluble vitamins (Q99) |
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Term
| What additional vitamin does someone with sickle cell disease need? |
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Definition
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Term
| A general practitioner refers to you for evaluation a 3 yo boy with frequent infections. You note the child has a loud systolic murmur, posteriorly rotated ears that are small and low set, down slanting and widely spaced eyes, a small jaw and an upturned nose. At birth, the child spent 2 weeks in the nursery for low calcium and seizures, and he still receives calcium supplementation, but your mother does not know why. You would like to order a rapid diagnostic test for this child. |
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Definition
| Intradermal skin test using Candida albicans (106) Possible DiGeorge. Candida skin test will result in no response in a patient with T-cell deficiencies. |
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Term
| A 2 year old girl has had 2 episodes of neisseria meningitidis septicemia and now admitted for Streptococcus pneumoniae septicemia. What test would you order to diagnose her? |
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Definition
| Asplenia. CBC demonstrating Howell-Jolly bodies (Q107) |
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Term
| A 3 yo has repeated episodes of sinusitis and otitis media. He was recently admitted for osteomyelitis of his femur with S. aureus. He has been persistently ill after 4-5 months of life. Physical exam is significant for the absence of lymph nodes and tonsillar tissue. His brother had similar issues and died at three. |
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Definition
| B-cell immunodeficiency. Check immunoglobulin levels. (Q105) |
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Term
| A 5 month old is admitted with severe varicella infection. THe lesions cover the infants entire body and the infant is beginning to show signs of respiratory distress. PMH is significant for h/o atopic dermatitis. THe family also notes frequent epistaxis, the last required packing in the ED. What lab value would you like to check? |
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Definition
| Platelet count (104) Wiskott Aldrich syndrome: eczema, thrombocytopenia, and unusual infections. |
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Term
| A 1 yo boy has been admitted 3x in the past with abscess formation requiring incision and drainage. He is now admitted for surgical drainage of a hepatic abscess identified on ultrasound. What test would you like to run? |
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Definition
| Nitrotetrazolium test for CGD (Q103) |
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Term
| Newborn is small for gestation, microcephalic, small palpebral fissures, short nose, smooth philtrum, thin upper lip, ptosis, microphthalmia, cleft lip and palate, and CNS abnormalities |
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Definition
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Term
| Newborn has midface hypoplasia, low nasal bridge, ocular hypertelorism, and accentuated Cupid's bow of the upper lip. Cleft lip and palate, growth retardation, mental deficiency, distal phalangeal hyperplasia, CV anomalies, skeletal defects. |
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Definition
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Term
| Congenital heart disease, caudal regression syndrome, small left colon in newborn. |
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Definition
| Infant of diabetic mother. |
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Term
| Does administration of phenobarbital in newborn infants increase or decrease neonatal jaundice? |
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Definition
| Reduces neonatal jaundice. (induces glucoronyl transferase. |
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Term
| A newborn infant is noted by staff to be having episodes of cyanosis and apnea. When attempted to feed him, his O2 levels drop into the 60s. When he is stimulated and crise, his oxygen levels increase into the 90s. What is the probable diagnosis? |
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Definition
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Term
| A mother calls you frantic because she has just been diagnosed with chickenpox. She delivered 7 days ago a term infant that appears to be eating, stooling, and urinating well. The child has been afebrile and seems to be doing well. What is the most appropriate step in management. |
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Definition
| Advise mother to continue regular well-baby care for the infant. Per the CDC, the VZIG should be administered to the infant immediately after delivery if the mother had the onset of varicella within 5 days prior to delivery, and immediately upon diagnosis if her chicken pox started within 2 days after delivery. |
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Term
| A mother delivers a neonate with meconium staining and Apgar scores of 3/3. She had no prenatal care and had an emergency C-section for severe fetal bradycardia. What sequelae could be expected to develop in this intubated neonate with respiratory distress? |
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Definition
| Sustained rise in pulmonary arterial pressure. Clinical picture suggests aphyxsia. The hypoxemia, acidosis, and poor perfusion can damage a neonate's brain, heart, kidney, liver, and lungs. There can be excessively high pulmonary arterial pressure at the same time systemic blood pressure begins to fall, resulting in a persistent right-to-left shunt across a PDA or FO. |
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Term
| A full-term infant is born after a normal pregnancy; delivery, however, is complicated by marginal placental separation. At 12 hours of age, the child, appearing to be in good health, passes a bloody meconium stool. For determining the cause of bleeding, which diagnostic procedure should be performed first? |
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Definition
| An Apt test. It differentiates between fetal and adult hemoglobin. Fetal hemoglobin is alkaline resistant. |
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Term
| What medications are contraindicated in breastfeeding moms? |
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Definition
| Lithium, cyclosporin, antineoplastic agents, cocaine and heroin, amphetamines, ergotamines, and bromocriptine (suppresses lactation). |
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Term
| A recovering premature infant who weighs 950 g is fed breast milk to provide 120 cal/kg/day. Over the ensuing weeks, the baby is most apt to develop what? |
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Definition
| Hypocalcemia. The average healthy low weight newborn requires 200 mg/kg of calcium. Breast milk has much less calcium and phosphorus than do commercial formulas. |
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Term
| The nurse from the NICU calls you to evaluate a baby. The infant, born at 32 weeks is now 1 week old and had been doing well on increasing nasogastric feedings. This afternoon, however, the nurse noted that the infant has vomited the last two feedings and seems less active. Your exam reveals a tense and distended abdomen with decreased bowel sounds. You see he has a grossly bloody stool. What is your diagnosis? |
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Definition
| Necrotizing enterocolitis. Tx by stopping feels, beginning IV fluids, and ordering serial abdominal films and systemic abx. |
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Term
| A 1400 g 34 week gestation newborn is transferred to the nursery. Within an hour, the nurse calls you to say that the infant is tachypneic. HR is 140 bpm and RR is 80 breaths/min. Temperature is 35 C and peripheral oxygen saturation is 98%. The lungs are clear with B/L breath sounds and there is no murmur, infant is in no distress. What is the next step in evaluation? |
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Definition
| Put the child under a warmer-- they have relatively large surface area and no ability to shiver. |
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Term
| A 1600 g infant is more likely than a 2600 g infant, both born at 36 weeks, to have what? |
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Definition
| Congenital malformations and increased risk of future growth retardation. Meconium aspiration syndrome leading to pneumothorax and pneumomediastinum or pulmonary hemorrhage is more common than hyaline membrane disease in this small for gestational age infants. |
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Term
| A 3 day old ex 32 weeker, weighing 1700 g has 3 episodes of apnea, each lasting 20-25 seconds, occurring after a feeding. During these episodes, the HR drops from 140-100 bpm and the child remains motionless; between episodes, the child displays normal activity. Blood sugar is 50 mg/dL and serum calcium is normal. Why are the apneic episodes happening? |
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Definition
| Immature respiratory response |
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Term
| What CNs do Erb-Duchenne's palsy affect? |
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Definition
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Term
| What CNs does Klumpke's palsy affect? |
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Definition
| C7-8, T1. Creates palsy of the hand and Horner syndrome. |
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Term
| Newborn infant measurement of fronto-occipital head circumference that is 2 cm larger than initial measurement. Your exam is significant for tachycardia and squishy fell to the entire scalp. You elicit a fluid way. What is the management? |
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Definition
| Transfer to NICU. Subgaleal or subaponeurotic hemorrhage can be life treatening |
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Term
| A 19 yo primiparous woman develops toxemia in her last trimester of pregnancy and during her course of labor, is treated with mg sulfate. At 38 wks gestation, she delivers a 2100 g infant with 1/5. Lab studies at 18 hours of age reveal a hct of 79%, platelet count of 100, glucose 41, mg 2.5 and calcium 8.7. Shortly after, the infant goes into a generalized seizure. What is the most likely cause? |
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Definition
| Polycythemia. Manifestations of hyperviscosity syndrome include tremulousness or jitteriness and can progress to seizure activity, sludging of blood in the microculation or frank thrombus, necrotizing enterocolitis, and tachypnea. |
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Term
| You are called to a delivery of a term infant, about to be born via cesarean section to a mother with multiple medical problems, including a 1-month history of a seizure disorder, for which she takes phenytoin; rheumatic heart disease, for which she must take penicillin daily for life; hypertension, for which she takes propranolol; acid reflux, for which she takes aluminum hydroxide; and a deep venous thrombosis in her left calf diagnosed 2 days ago, for which she was started on a heparin infusion. The obstetrician is concerned about the possible effects of the mother’s multiple medications on the newborn infant. Which of the following medications is most likely to cause harm in this newborn infant at delivery? |
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Definition
| Propanolol. Propranolol, which may cause growth retardation when given throughout pregnancy, diminishes the ability of an asphyxiated infant to increase heart rate and cardiac output. It has also been associated with hypoglycemia and apnea. |
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Term
| What are some complications of cleft palate that is not surgically repaired? |
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Definition
| The infant pictured has bilateral cleft lip and palate. This defect occurs in about 4% of the siblings of affected infants; its incidence in the general population is 1 in 1000. Evaluation for other structural and chromosomal abnormalities is indicated. Although affected infants are likely to have feeding problems initially, these problems usually can be overcome by feeding in a propped-up position and using special nipples. Complications include recurrent otitis media and hearing loss as well as speech defects, which may be present despite good anatomic closure. Repair of a cleft lip usually is performed within the first 2 to 3 months of life; the palate is repaired later, usually between the ages of 6 months and 5 years. |
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Term
| What is transient tachypnea of the newborn? |
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Definition
| Transient tachypnea of the newborn is usually seen after a normal vaginal or, especially, after a cesarean delivery. The condition is a result of retained fetal lung fluid. These patients have tachypnea, retractions, grunting, and sometimes cyanosis. The chest exam- ination is usually normal; the chest radiograph demonstrates prominent pulmonary vascular markings with fluid in the fissures and hyperexpansion (flat diaphragms). Therapy is supportive, with maintenance of normal oxygen saturation. Resolution usually occurs in the first 3 days of life. |
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Term
| What are some syndromes associated with polydactyly? |
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Definition
| Some syn- dromes that are associated with polydactyly are trisomy 13, Rubinstein-Taybi syndrome, Meckel-Gruber syndrome, and Ellis-van Creveld syndrome. |
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Term
| A previously healthy FT infant has several episodes of duskiness and apnea during the second day of life? What should you consider? |
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Definition
| Idiopathic apnea is common in premature infants but is not expected in the full-term newborn. When apnea occurs in the term infant, there is almost always an identifiable cause. Sepsis, gastroesophageal reflux, congenital heart disease, seizures, hypoglycemia, and airway obstruction can cause apnea in term newborns. Harlequin syndrome is a transient change in the skin color of the otherwise asymptomatic newborn (usually preterm) in which the depen- dent side of the entire body turns red while the upper side remains pale. |
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Term
| What are some complications of twin-to-twin transfusion? |
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Definition
| Twin-to-twin transfusions occur in about 15% of monochorionic twins and commonly cause intrauterine death. This disorder should be suspected when the hematocrits of twins differ by more than 15 mg/dL. The donor twin is likely to have oligohydramnios, anemia, and hypovolemia with evidence of shock if the hematocrit is significantly reduced; the recipient twin is likely to have hydramnios and plethora and to be larger than the donor twin. A 20% difference in body weight may result. As the central venous hematocrit rises above 65%, infants can develop hyperviscosity, respiratory distress, hyperbilirubinemia, hypocalcemia, renal vein thrombosis, congestive heart failure, and convulsions. |
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Term
| Parents bring a 5-day-old infant to your office. The mother is O neg- ative and was Coombs positive at delivery. The term child weighed 3055 g (6 lb, 1 oz) at birth and had measured baseline hemoglobin of 16 g/dL and a total serum bilirubin of 3 mg/dL. He passed a black tarlike stool within the first 24 hours of life. He was discharged at 30 hours of life with a stable axillary temperature of 36.5°C (97.7°F). Today the infant’s weight is 3000 g, his axillary temperature is 35°C (95°F), and he is jaundiced to the chest. Parents report frequent yellow, seedy stool. You redraw labs and find his hemoglobin is now 14 g/dL, and his total serum bilirubin is 13 mg/dL. The change in which of the following parameters is of most concern? |
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Definition
| Temperature. Temperature should not change; temperature instability in a term infant is frequently a sign of serious infection. |
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Term
| A newborn has bilateral cataracts and microphthalmia, intrauterine growth retardation, hemorrhagic skin lesions scattered throughout the body, and a harsh systolic murmur heard at the left sternal border and radiating to the lung fields. |
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Definition
| Congenital rubella. Infants will be small, with intrauterine growth retardation. They may also manifest cataracts, microphthalmia, myocarditis, and a red or purple macular rash (“blueberry muffin” rash). Structural heart defects (such as a patent ductus arteriosis, pulmonary artery stenosis, and septal defects) are typical of congenital rubella, but not in the other TORCH infections. Laboratory anomalies may include a hemolytic anemia with thrombocytopenia, elevated liver functions, and pleocytosis in the spinal fluid. Affected children do not have a good prognosis. Congenital rubella is not commonly seen in developed countries with high immunization rates. |
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Term
| A week-old infant presents with fever and focal seizure. |
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Definition
| Congenital HSV. Infants can display isolated CNS involvement, isolated cutaneous infection, or systemic generalized infection. Treatment usually is with acyclovir; even with therapy, morbidity is high in infants with CNS involvement. |
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Term
| A newborn has hydrocephalus, chorioretinitis, intracranial calcifications, and anemia. |
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Definition
| Congenital toxoplasmois. the combination of hydrocephalus, chorioretinitis, and intracranial calcifications are considered the “classic triad” of toxoplasma infection in a neonate. Infection usually occurs during primary infection of the mother or as a reactivation of infection in an immunecompromised host. These infants may also display symptoms similar to other congenital infections, such as anemia, a petechial rash, organomegaly, jaundice, and seizures. |
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Term
| A newborn has microcephaly, intracranial calcifications, hepatosplenomegaly, and marked hyperbilirubinemia and thrombocytopenia. |
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Definition
| Congenital CMV, intrauterine growth restriction (IUGR), hepatosplenomegaly, jaundice, petechiae or purpura, microcephaly, chorioretinitis, and intracranial calcifications. |
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Term
| A large-for-gestation-age term infant is delivered via scheduled cesarean section develops, at 15 minutes of age, tachypnea, grunting, flar- ing, and retractions. The child does not move his left arm well, but you find no clavicular fracture. A chest radiograph shows the left diaphragm to be markedly higher than the right. |
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Definition
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Term
| A postterm infant is born at home after a prolonged and difficult labor. The maternal grandmother brings the infant to the hospital at 1 hour of life because of fast breathing. Grandmother notes that the child seemed well for a while, but then developed increased work of breathing. Physical examina- tion reveals an infant in moderate respiratory distress with diminished breath sounds on the left. Chest radiograph reveals the heart to be pushed to the right side and loss of lung markings in the left lung field. |
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Definition
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Term
| An infant of uncertain but seemingly term dates is born via emergent cesarean section for nonreassuring heart tones; the obstetrician has noted little or no amniotic fluid. The infant is small, has abnormally shaped limbs, and an unusual facies. The child has immediate respiratory distress. A chest radiograph reveals a poorly developed chest with little lung tissue. |
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Definition
| Primary pulmonary hypoplasia |
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Term
| Apreterminfantisnow7weeksold.Shewasintubatedfor2weeksand was weaned off oxygen at 3 weeks of age. You are about to leave your office for Thanksgiving holiday when the emergency room calls to tell you she has new hypoxia, respiratory distress, wheezes, and runny nose. A chest radiograph reveals patchy infiltrates and hyperexpansion in both lung fields. The newborn’s 2-year-old sibling has an upper respiratory infection. |
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Definition
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Term
| A child’s left arm and leg seem bigger than those on the right. In addition, the child has aniridia. None of the family members have aniridia or hemihypertrophy, nor do they know of anyone else in the family with these conditions. |
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Definition
| Wilms tumor. Aniridia is found in 1% to 2% of children with Wilms tumor. Genitourinary anomalies are found in 4% to 5%, and hemihy- pertrophy is associated with this tumor in 2% to 3% of patients. Wilms tumor is the most common primary renal malignancy in childhood. Presentation is usually an abdominal mass, sometimes with hypertension, hematuria, abdom- inal pain, and fever. Prognosis is generally good. |
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Term
| An infant has fusion of the eyebrows, heterochromic irises, a broad nasal root with lateral displacement of the medial canthi, and a white fore- lock. |
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Definition
| Deafness. Waardenburg syndrome is inherited as an autosomal dominant trait with variable penetrance. It includes, in decreasing order of frequency, the following anomalies: lateral displacement of the medial canthi, broad nasal bridge, medial hyperplasia of the eyebrows, partial albinism commonly expressed by a white forelock or heterochromia (or both), and deafness in 20% of cases. |
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Term
| An infant presents with a large, flat vascular malformation over the left face and scalp. The mother notes that her other child was born with a capillary hemangioma on his arm and asks if this is the same thing. You explain that this vascular malformation is different, and that you will want to monitor him for another condition. |
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Definition
| Seizures; Sturge-Weber syndrome. The malforma- tion also involves the meninges and results in atrophy to the underlying cerebral cortex. The damage is manifested clinically by grand mal seizures, mental deficiency, and hemiparesis or hemianopsia on the contralateral side. The cause is unknown. |
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Term
| A new mother points out several hypopigmented oval macules over the child’s trunk and extremities. She notes that these have been present since birth. She is concerned because she had a brother with the same spots whom she thinks had “growths” in his brain. |
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Definition
| Seizures. Infants who have tuberous sclerosis are often born with hypopig- mented oval or irregularly shaped skin macules (ash leaf). Cerebral sclerotic tubers also present from birth and become visible radiographically by the third to fourth year of life. Myoclonic seizures, present in infancy, can con- vert to grand mal seizures later in childhood. Adenoma sebaceum appears at 4 to 7 years of age. The disease, which also affects the eyes, kidneys, heart, bones, and lungs, is inherited as an autosomal dominant trait with variable expression; new mutations are very common. |
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Term
| A1-day-oldinfanthasafronto-occipitalheadcircumferencethatis2cm larger than the initial measurement done several hours before, the scalp has a “squishy” feel to it, and the infant has developed tachycardia. |
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Definition
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Term
| A 6-month-old comatose infant has multiple broken bones in various stages of healing, a bulging anterior fontanelle, and retinal hemorrhages. |
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Definition
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Term
| Previous premature infant born at 27 weeks’ gestation and now 6 months of age presents with macrocephaly and hydrocephalus on ultra- sonogram. |
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Definition
| Interventricular hemorrhage. Intraventricular hemorrhage (IVH) is commonly seen in very small, preterm infants. The incidence of IVH increases with smaller-size infants and in those with perinatal complications. It occurs in the gelatinous subependymal germinal matrix of the brain and can lead to progressive posthemorrhagic hydrocephalus. Hydrocephalus in these children can present with enlarging head circumference, apnea and bradycardia, lethargy, bulging fontanelle, widely split sutures, or no signs at all. Therapy can include ventricular-peritoneal shunting. |
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Term
| Anewbornisdiagnosedwithcongenitalheartdisease.Youcounselthe family that the incidence of heart disease in future children is which of the following? |
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Definition
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Term
| A newborn infant has mild cyanosis, diaphoresis, poor peripheral pulses, hepatomegaly, and cardiomegaly. Respiratory rate is 60 breaths per minute, and heart rate is 250 beats per minute. The child most likely has congestive heart failure caused by which of the following? |
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Definition
| Paroxysmal atrial tachycardia. Congestive heart failure from any cause can result in mild cyanosis, even in the absence of a right-to-left shunt, and in poor peripheral pulses when cardiac output is low. Congestive heart failure from many causes can be associated with a rapid pulse rate (up to 200 beats per minute). A pulse rate greater than 250 beats per minute, however, should suggest the presence of a tachyarrhythmia. |
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Term
| A child has a 2-week history of spiking fevers, which have been as high as 40°C (104°F). She has spindle-shaped swelling of finger joints and complains of upper sternal pain. When she has fever, the parents note a faint salmon-colored rash that resolves with the resolution of the fever. She has had no conjunctivitis or mucositis, but her heart sounds are muffled and she has increased pulsus paradoxus. Which of the following is the most likely diagnosis? |
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Definition
| Juvenile rheumatoid arthritis. Juvenile rheumatoid arthritis (JRA, or Still disease) frequently causes spindle-shaped swelling of finger joints and can involve unusual joints such as the sternoclavicular joint. Presentation of JRA occurs as either polyarthritis (five or more joints, systemic symptoms not so severe or persistent), pauciarticular (four or fewer joints, lower-extremity joints, extra-articular disease unusual), or systemic disease (severe constitutional disease, systemic symptoms prior to arthritis, rheumatoid rash, high spiking fevers, variable joint involvement). |
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Term
| A cyanotic newborn is suspected of having congenital heart disease. He has an increased left ventricular impulse and a holosystolic murmur along the left sternal border. The ECG shows left-axis deviation and left ventricular hypertrophy (LVH). Which of the following is the most likely diagnosis? |
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Definition
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Term
| An infant in the neonatal intensive care unit (NICU) has shortened lower distal arms but with thumbs. Her platelet count is profoundly low. What cardiac abnormality does he most likely have? |
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Definition
| ASD. Thrombocytopenia- absent radius syndrome (TAR) is diagnosed in the newborn who demon- strates profound thrombocytopenia, bilateral absence of radius, and abnormally shaped thumbs. Cardiac lesions include TOF and ASD. About 40% of patients die in the newborn period as a result of low-platelet- induced bleeding. |
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Term
| A 15-year-old boy comes to your office for a Special Olympics sports physical. His height is in the 3rd to 5th percentile and his weight is in the 50th percentile. Physical examination reveals a young man with shieldlike chest, cryptorchidism, low-set and malformed ears, ptosis, and pectus excavatum. |
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Definition
| Noonan syndrome. Noonan syndrome, the “male Turner syndrome,” occurs in both sexes. The most common features include short stature, downslanting palpebral fissures, ptosis, low set and malformed ears, webbed neck, shieldlike chest, pulmonic stenosis, and cryptorchidism. Mental retardation is seen in one- fourth of affected individuals. It is associated with advanced paternal age. |
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Term
| n infant previously diagnosed with a large muscular VSD comes to the office with complaints from the mother of fatigue and poor feeding over the past month. You note the child has not gained weight since the previ- ous visit 2 months ago. The child is apathetic, tachypneic, and has wheezes and crackles on lung auscultation. |
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Definition
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Term
| You are asked to evaluate an infant born vaginally 3 hours previously to a mother whose only pregnancy complication was poorly controlled gesta- tional diabetes. The nursing staff noticed that the infant was breathing abnor- mally. On examination, you find that the infant is cyanotic, has irregular, labored breathing, and has decreased breath sounds on the right side. You also note decreased tone in the right arm. You provide oxygen and order a stat portable chest radiograph, which is normal. Which of the following studies is most likely to confirm your diagnosis? |
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Definition
| Chest ultrasound. An ultrasound or fluoroscopy of the chest would reveal asymmetric diaphragmatic motion in a seesaw manner. |
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Term
| A2-year-oldgirlisplayinginthegaragewithherChihuahua,onlypar- tially supervised by her father, who is weed-whacking around the garden gnomes in the front yard. He finds her in the garage, gagging and vomiting. She smells of gasoline. In a few minutes she stops vomiting, but later that day she develops cough, tachypnea, and subcostal retractions. She is brought to your emergency center. Which of the following is the most appropriate first step in management? |
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Definition
| Perform pulse oximetry and arterial blood gas |
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Term
| You are asked to evaluate a 4-year-old boy admitted to your local chil- dren’s hospital with a diagnosis of pneumonia. The parents state that the child has had multiple, intermittent episodes of fever and respiratory diffi- culty over the past 2 years, including cyanosis, wheezing, and dyspnea; each episode lasts for about 3 days. During each event he has a small amount of hemoptysis, is diagnosed with left lower lobe pneumonia, and improves upon treatment. Repeat radiographs done several days after each event are reportedly normal. His examination on the current admission is significant for findings similar to those described above, as well as digital clubbing. Which of the following is the most appropriate primary recommendation? |
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Definition
| Bronchoalveolar lavage for idiopathic pulmonary hemosiderosis. While fever, respira- tory distress, and localized chest radiograph findings should point initially toward an acute pneumonia, the history of recurrence, the rapid clearing of radiographic findings, and the hemoptysis suggest pulmonary hemorrhage. The examination finding of digital clubbing suggests a chronic process. |
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Term
| A 4-year-old boy was admitted to the hospital last night with the complaint of “difficulty breathing.” He has no past history of lung infec- tion, no recent travel, and no day-care exposure; he does, however, have an annoying tendency to eat dirt. In the emergency center he was noted to be wheezing and to have hepatomegaly. He is able to talk, relaying his concern about his 6-week-old Chihuahua being left alone at home. Laboratory studies revealed marked eosinophilia (60% eosinophils). Which of the fol- lowing tests is most likely to produce a specific diagnosis? |
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Definition
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Term
| You are awakened in the night by your 2-year-old son, who has deve- loped noisy breathing on inspiration, marked retractions of the chest wall, flaring of the nostrils, and a barking cough. He has had a mild upper respiratory infection (URI) for 2 days. Which of the following therapies is indicated? |
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Definition
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Term
| A 13-year-old patient with sickle-cell anemia presents with respiratory distress; she has an infiltrate on chest radiograph. The laboratory workup of the patient reveals the following: hemoglobin 5 g/dL; hematocrit 16%; white blood cell count 30,000/μL; and arterial blood (room air) pH 7.1, PO2 35 mm Hg, and PaCO2 28 mm Hg. These values indicate which of the following? |
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Definition
| a. Acidemia, metabolic acidosis, respiratory alkalosis, and hypoxia. The low pH in the arterial blood can be called acidemia. In this context, it is likely that the hydrogen ions come from lactic acid produced by anaerobic metabolism in tissues with inadequate oxygen delivery. Inadequate oxy- genation is caused by the low PO2, the low oxygen-carrying capacity of the blood (Hgb 5 g/dL), and circulatory inadequacy due to the sickling itself and to the vascular disease it produces. The low PCO2 reflects the hyperventilation, which is secondary to the respiratory difficulty, and to the anemia, and is also respiratory compensation for the metabolic acidosis. |
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Term
| A 24-year-old woman arrives in the emergency center in active labor. She is at term, but received no prenatal care after 16 weeks of gestation when she lost her insurance coverage. The mother has an uncomplicated vaginal delivery. You are paged shortly after birth when the baby is noted to have respiratory distress. The infant has diminished breath sounds on the left, and the PMI is shifted toward the right. A chest radiograph is shown. The NG tube you placed earlier reveals the stomach to be below the diaphragm. Which of the following is the most likely diagnosis at this point? |
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Definition
| Congenital cystic adenomatoid malformation |
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Term
| One of your asthmatic patients arrives for a checkup. The mother reports that the child seems to need albuterol daily, especially when exer- cising, and she has coughing fits that awaken her from sleep about twice a week. Her grandmother had recommended a Chihuahua as a “cure” for her asthma, but her mother has seen no difference since the arrival of the pet. Appropriate treatment measures would include which of the following? |
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Definition
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Term
| What is the treatment for eosinophilic esophagitis? |
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Definition
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Term
| What age does pyloric stenosis generally present? |
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Definition
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Term
| The newborn nursery calls to notify you that a 1-day-old baby boy has developed abdominal distension and bilious emesis. Prenatal history was significant for areas of echogenic bowel seen on ultrasound. |
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Definition
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Term
| What is the most serious complication of ulcerative colitis? |
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Definition
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Term
| A 10-month-old baby boy, recently adopted from Guyana, has a 5-hour history of crying, with intermittent drawing up of his knees to his chest. On the way to the emergency room he passes a loose, bloody stool. He has had no vomiting and has refused his bottle since the crying began. Physical examination is noteworthy for an irritable infant whose abdomen is very difficult to examine because of constant crying. His temperature is 38.8°C (101.8°F). The rectal ampulla is empty, but there is some gross blood on the examining finger. Which of the following studies would be most helpful in the immediate management of this patient? |
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Definition
| Air contrast enema for intussiception |
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Term
| A 6-week-old infant is admitted to the hospital with jaundice. Her out- patient blood work demonstrated a total bilirubin of 12 mg/dL with a direct portion of 3.5 mg/dL. Which of the following disorders is most likely to be responsible? |
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Definition
| A choledocal cyst in an obstructive like picture |
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Term
| An 18-month-old infant is found with the contents of a bottle of drain cleaner in his mouth. Which of the following treatment options is most appropriate? |
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Definition
| Endoscopic exam within the first 12-24 hours. Endoscopic examination of the esophagus and stomach is a diagnostic method of determining the extent of the mucosal injury. |
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Term
| A newborn infant, the product of an emergency cesarean section, is 24 hours old and has a grossly bloody stool. She looks well otherwise. What test? |
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Definition
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Term
| A 7-day-old premature infant born at 26 weeks of gestation now has a grossly bloody stool, abdominal distention, and increasing oxygen requirements. What test? |
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Definition
| Abdominal series. Necrotizing enterocolitis is a life-threatening condition seen mostly in premature infants. Although the precise etiology is unknown, contributing factors include GI tract ischemia, impaired host immunity, the presence of bacterial or viral pathogens, and the presence of breast milk or formula in the gut. Findings include bloody stools, abdominal distension, hypoxia, acidosis, and emesis. The initial diagnostic test of choice is plain film radiographs. |
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Term
| A 2-year-old has crampy abdominal pain and grossly bloody diarrheal stool, but no fever. His abdominal examination reveals no masses. A family member, who ate at the same local hamburger shop the night prior, has the same symptoms. |
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Definition
| Stool culture on sorbitol-MacConkey medium. Enterohemorrhagic Escherichia coli |
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Term
| A 7-year-old has been vomiting for 2 days and has had diarrhea for 1 day. He now notes that he has small streaks of blood in his emesis. The rest of his family has had similar symptoms. |
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Definition
| No immediate intervention |
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Term
| A 10-year-old has complained for 1 month of intermittent epigastric pain that awakens him from sleep. He notes that eating food sometimes helps. He reports black stools during the prior week, and also admits that he has occasionally vomited frank blood. |
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Definition
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Term
| A15-year-oldvegetarianbeingtreatedfortuberculosisdevelopsperiph- eral neuropathy. Supplement with? |
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Definition
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Term
| A 9-month-old infant, who has been fed cow’s milk exclusively for 4 months, is tachycardic and pale. Treat with? |
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Definition
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Term
| A3-day-oldinfantbornathomeisbroughttotheemergencycenterwith bloody stools, hematemesis, and purpura. His circumcision is oozing blood. Tx with? |
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Definition
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Term
| A 17-month-old toddler has been irritable over the past month. She now refuses to walk and seems to have tenderness in both of her legs. She has had a low-grade fever, and she has petechiae on her skin and mucous membranes. She has a small cut that has not healed well. Radiographs of the legs reveal generalized bony atrophy with epiphyseal separation. Tx with? |
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Definition
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Term
| A4-year-oldwhosedietconsistsmostlyofcheesepuffsandcolabegins to have problems walking at night, complaining that he cannot see well. In addi- tion, his skin has become dry and scaly, and he has complained of headache for a month. Tx with? |
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Definition
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Term
| An exclusively breast-fed 2-year-old is brought to the emergency center with pain in his right leg after a fall. Physical examination reveals a small child with a 3-cm anterior fontanelle, a flattened occiput, a promi- nent forehead, significant dental caries, bumpy ribs, and bowed extremi- ties. Radiographs reveal a greenstick fracture at the site of pain, along with fraying at the distal ends of the femur. Tx with? |
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Definition
| Vitamin D. Vitamin D deficiency leads to rickets, a failure of bone mineralization, and the clinical picture described in the question. |
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Term
| Match the disease with the appropriate genetic mechanism listed below. A 3-year-old boy with myoclonus, ataxia, weakness, and seizures who has cytochrome oxidase-negative ragged red fibers noted on muscle biopsy |
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Definition
| Mitochondrial inheritance |
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Term
| Match the disease with the appropriate genetic mechanism listed below. mentally retarded 4-year-old boy who was noted to be hypotonic at birth and had failure to thrive in infancy now has a tremendous appetite, obesity, hypogonadism, and small hands and feet |
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Definition
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Term
| Match the disease with the appropriate genetic mechanism listed below. A previously normal father of one of your patients, from a family with members known to have fragile X syndrome, develops ataxia and tremor |
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Definition
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Term
| Match the disease with the appropriate genetic mechanism listed below. A developmentally delayed 2-year-old has bilateral hypopigmented whorls on the upper extremities |
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Definition
| Mosaicism (hypopigmentation) |
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Term
| A newborn with hypoglycemia, hypocalcemia, and hypoplastic lower extremitie |
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Definition
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Term
| A small newborn with a large ventricular septal defect (VSD), clenched hands, cleft palate, rounded heels, and a horseshoe kidney. |
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Definition
| Edwards Syndrome (Trisomy 18) |
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Term
| A 14-year-old girl with short stature, thick neck, minimal pubertal development, repaired coarctation of the aorta, and normal intelligence. |
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Definition
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Term
| A 2-year-old boy, less than the 5% for weight and height, is in early childhood intervention for developmental delay. He has a short nose, thin upper lip with thin vermillion border, a VSD, and short palpebral fissures. |
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Definition
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Term
| A newborn has low sloping shoulders, right hand attached at elbow with agenesis of the forearm, cardiac abnormalities, missing chest wall mus- culature, and a bifid thumb. |
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Definition
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Term
| A6-year-old girl with cognitive delay, a blowing systolic heart murmur, short stature, round face, bilateral transpalmar crease, upslanting palpebral fissures, small ears, and epicanthal folds. |
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Definition
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Term
| A 10-year-old boy with hypermobile joints and poor wound healing. |
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Definition
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Term
select the serum concentrations (mEq/L) of sodium (Na+) and potassium (K+) with which it is most likely to be associated in a dehydrated patient
A 4-month-old boy with salt-losing 21-hydroxylase deficiency (adrenogenital syndrome) |
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Definition
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Term
select the serum concentrations (mEq/L) of sodium (Na+) and potassium (K+) with which it is most likely to be associated in a dehydrated patient
An 11-year-old boy with central diabetes insipidus secondary to an automobile accident |
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Definition
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Term
select the serum concentrations (mEq/L) of sodium (Na+) and potassium (K+) with which it is most likely to be associated in a dehydrated patient
A 2-year-old girl with nephrogenic diabetes insipidus |
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Definition
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Term
select the serum concentrations (mEq/L) of sodium (Na+) and potassium (K+) with which it is most likely to be associated in a dehydrated patient
A 4-year-old boy with hyperaldosteronism |
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Definition
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Term
select the serum concentrations (mEq/L) of sodium (Na+) and potassium (K+) with which it is most likely to be associated in a dehydrated patient
An 8-year-old boy with Addison disease (in crisis) |
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Definition
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Term
| A 15-year-old defensive lineman for his high school football team whose mother reports that his shoulder pads have permanently stained his neck |
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Definition
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Term
| A 6-day-old infant with severe hypotonia and poor feeding since birth, hypogonadism and night blindness with retinitis pigmentosa |
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Definition
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Term
| A 5-year-old boy with mental retardation and polydactyly |
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Definition
| Laurence-Moon-Biedl syndrome |
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Term
| A 5-day-old girl with brachydactyly, round facies, and short neck |
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Definition
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Term
| A 15-year-old girl with menstrual irregularities and hirsutism |
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Definition
| Polycystic ovary syndrome |
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Term
For each of the disorders listed below, select the serum concentration of calcium (Ca2+) and phosphate (PO4) with which it is most likely to be associated.
Three boys in a family with hypodense calcification of their bones and a history of fractures; their condition is unresponsive to dietary changes or vitamin supplementation |
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Definition
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Term
For each of the disorders listed below, select the serum concentration of calcium (Ca2+) and phosphate (PO4) with which it is most likely to be associated.
A short, 4-year-old, mentally retarded child with brachydactyly of the fourth and fifth digits; obesity with round facies; short neck; subcapsu- lar cataracts; and cutaneous, subcutaneous, and perivascular calcifications of the basal ganglia |
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Definition
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Term
For each of the disorders listed below, select the serum concentration of calcium (Ca2+) and phosphate (PO4) with which it is most likely to be associated.
A 4-year-old child with blue sclera and a history of multiple fractures with minimal trauma |
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Definition
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Term
For each of the disorders listed below, select the serum concentration of calcium (Ca2+) and phosphate (PO4) with which it is most likely to be associated.
A 6-year-old child who complains of numbness and tingling of the hands, and later develops tonic-clonic seizures |
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For each of the disorders listed below, select the serum concentration of calcium (Ca2+) and phosphate (PO4) with which it is most likely to be associated.
An otherwise healthy 18-year-old girl with medullary thyroid carcinoma |
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| A small-for-gestational-age infant is born at 30 weeks’ gestation. At 1 hour of age, his serum glucose is noted to be 20 mg/dL (normally greater than 40 mg/dL). Which of the following is the most likely explanation for hypoglycemia in this infant? |
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| Inadequate stores of nutrients |
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| A very upset mother brings her 8-month-old child to the emergency room because he will not move his leg. She reports that when she was car- rying him to the car about half an hour ago, she slipped on some ice and fell on top of him. The mother, an 18-year-old African American woman, has been exclusively breast-feeding her child. She has only recently started him on cereals, and has not supplemented his diet with vitamins. Which of the following laboratory findings would be expected? |
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Definition
Hypocalciuria. Nutritional rickets is caused by a dietary deficiency of vitamin D and lack of exposure to sunlight.
Intestinal absorption of calcium and phosphorus is diminished in vitamin D deficiency. Transient hypocalcemia stimulates the secretion of parathyroid hor- mone and the mobilization of calcium and phosphorus from bone; enhanced parathyroid hormone activity leads to phosphaturia and diminished excretion of calcium. In children with nutritional rickets, the concentration of serum calcium usually is normal and the phosphate level is low. Increased serum alkaline phosphatase is a common finding. The excretion of calcium in the urine is increased only after therapy with vitamin D has been instituted. |
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| A 7-day-old boy is admitted to a hospital for evaluation of vomiting and dehydration. Physical examination is otherwise normal except for minimal hyperpigmentation of the nipples. Serum sodium and potassium concentrations are 120 mEq/L and 9 mEq/L (without hemolysis), respectively; serum glucose is 40 mg/dL. Which of the following is the most likely diagnosis? |
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Definition
| Salt-losing congen- ital adrenal hyperplasia (adrenogenital syndrome, 21-hydroxylase deficiency) usually manifests during the first 5 to 15 days of life as anorexia, vomiting, diarrhea, and dehydration. Hypoglycemia can also occur. Affected infants can have increased pigmentation, and female infants show evidence of virilization, that is, ambiguous external genitalia. Hyponatremia, hyperkalemia, and uri- nary sodium wasting are the usual laboratory findings. Death can occur if the diagnosis is missed and appropriate treatment is not instituted. |
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| A 15-year-old boy has been immobilized in a double hip spica cast for 6 weeks after having fractured his femur in a skiing accident. He has become depressed and listless during the past few days and has complained of nausea and constipation. He is found to have microscopic hematuria and a blood pressure of 150/100 mm Hg. Which of the following is the most appropriate course of action? |
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Definition
Collect urine for measurement of the calcium to creatinine ratio.
erious complications of immobilization hypercalcemia, and the hypercalciuria that occurs as a result, include nephropathy, nephrocalcinosis, hypertensive encephalopathy, and convulsions. The early symptoms of hypercalcemia—namely, constipation, anorexia, occasional vomiting, polyuria, and lethargy—are nonspecific and may be ascribed to the effects of the injury and hospitalization. |
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| A 4-year-old child has mental retardation, shortness of stature, brachy- dactyly (especially of the fourth and fifth digits), and obesity with round facies and short neck. The child is followed by an ophthalmologist for sub- capsular cataracts, and has previously been noted to have cutaneous and subcutaneous calcifications, as well as perivascular calcifications of the basal ganglia. This patient is most likely to have which of the following features? |
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Definition
| Elevated concentrations of parathyroid hormone. The patient with the features listed likely has pseudohypoparathyroidism (Albright hereditary osteodystrophy). Such patients have chemical findings of hypoparathyroidism (low calcium, high phosphorus), but parathyroid hormone levels are high, indicating resistance to the action of this hormone. Parathyroid hormone infusion does not produce a phosphaturic response. |
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| A 1-year-old boy presents with the complaint from his parents of “not developing normally.” He was the product of an uneventful term pregnancy and delivery, and reportedly was normal at birth. His previous health-care provider noted his developmental delay, and also noted that the child seemed to have an enlarged spleen and liver. On your examination, you confirm the developmental delay and the hepatosplenomegaly, and also notice that the child has short stature, macrocephaly, hirsutism, a coarse facies, and decreased joint mobility. Which of the following is the most likely etiology of his condition? |
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The state laboratory calls your office telling you that a newborn infant, now 8 days old, has an elevated thyroid stimulating hormone (TSH) and low thyroxin (T4) on his newborn screen. If this condition is left untreated, the infant is likely to demonstrate which of the following in the first few months of life?
a. Hyperreflexia
b. Hyperirritability
c. Diarrhea
d. Prolonged jaundice
e. Hyperphagia |
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| The parents of a 1-month-old infant bring him to the emergency center in your local hospital for emesis and listlessness. Both of his parents wanted a natural birth, so he was born at home and has not yet been to see a physician. On examination, you find a dehydrated, listless, and irritable infant. Although you don’t have a birth weight, the parents do not feel that he has gained much weight. He has significant jaundice. His abdominal examination is significant for both hepatomegaly and splenomegaly. Laboratory values include a total bilirubin of 15.8 mg/dL and a direct bilirubin of 5.5 mg/dL. His liver function tests are elevated and his serum glucose is 38 mg/dL. Serum ammonia is normal. A urinalysis is negative for glucose, but it has a “mouse-like” odor. These findings are consistent with which of the following conditions? |
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Definition
| Galactosemia. Signs and symptoms in addition to those presented in the vignette include cataracts and ascites. deficiency in galactose-1-phosphate uridyl transferase. Urine reducing substances can be positive, but a routine urinalysis will be negative, as the urine strips do not react with galactose. Patients are at increased risk for E coli sepsis, and this infection may precede the diagnosis of galactosemia. Prompt removal of galactose from the diet usually reverses the symptoms, including cataracts. |
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| The parents of a 14-year-old boy are concerned about his short stature and lack of sexual development. By history, you learn that his birth weight and length were 3 kg and 50 cm, respectively, and that he had a normal growth pattern, although he was always shorter than children his age. The physical examination is normal and his growth curve is shown on the next page. His upper-to-lower segment ratio is 0.98. A small amount of fine axillary and pubic hair is present. There is no scrotal pigmentation; his testes measure 4.0 cm3 and his penis is 6 cm in length. In this situation, which of the following is the most appropriate course of action? |
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| Reassure the parents that the boy is normal |
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An infant is born to a woman who has received very little prenatal care. The mother is anxious, complains of heat intolerance and fatigue, and reports that she has not gained much weight despite having an increased appetite. On examination the mother is tachycardic, has a tremor, and has fullness in her neck and in her eyes. The infant is most likely at risk for development of which of the following?
a. Constipation
b. Heart failure
c. Macrocephaly
d. Third-degree heart block
e. Thrombocytosis |
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| A 12-year-old healthy girl has some dizziness at synagogue. In your office you find her to have a hemoglobin of 8 mg/dL, a white blood cell (WBC) count of 4000/μL, and a platelet count of 98,000/μL. Physical examination reveals an enlarged spleen. An x-ray of the femur is described as “appearing to be an Erlenmeyer flask.” Bone marrow examination shows abnormal cells. The diagnosis can be confirmed by measurement of activity of which of the following? |
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Definition
| Glucocerebrosidase (Gaucher Disease) which causes an abnormal accumulation of glucocerebroside in the reticuloendothelial system. Bone marrow aspirate shows the typical Gaucher cells engorged with glucocerebroside. Replacement of marrow with these cells leads to anemia, leukopenia, and thrombocytopenia. The liver and spleen can also be involved. Serum acid phosphatase is elevated. X-ray evaluation demon- strates an Erlenmeyer-flask appearance of the long bones |
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