Microcephaly

Purpuric rash, petechiae, jaundice

Hepatomegaly (Increased ALT>80, direct Bili >2)

Thrombocytopenia, anemia

Intracranial calcifications

Poor feeding, lethargy, seizures,

Hearing loss, chorioretinitis

9 mo well baby visit, entirely asymptomatic with appropriate g&d. PE: RUQ abdominal mass, pallor, no lymphadenopathy or jaundice.

Differential dx?

Neuroblastoma is the most frequently diagnosed neoplasm in infants -- most present before age 2. The tumor may present as a mass in the neck, chest or abdomen. Children with an abdominal neuroblastoma may be asymptomatic. However, they may also appear chronically ill and may have bone pain from metastases to the bone marrow or skeleton. Fever, pallor and weight loss are frequent presenting symptoms.

Wilms' tumor most frequently presents as an asymptomatic RUQ mass, often discovered by the parents or on routine examination.  Masses are generally smooth and rarely cross the midline.  Associated symptoms occur in 50% of patients and include abdominal pain and/or vomiting.  Patients may also be hypertensive.  The median age at diagnosis is 3 years.  

Teratoma symptoms are usually related to pressure effects on neighboring structures and include abdominal or back pain, nausea, vomiting, constipation and urinary-tract symptoms.

Hydronephrosis can be asymptomatic if the child has not had a UTI. Obstructions at the uretero-pelvic junction can lead to hydronephrosis and a palpable kidney which manifest sometimes as a flank mass.  

Caloric requirements of infant:

*Term infants: 100–120 cal/kg/day

*Preterm infants: 115–130 cal/kg/day

*Very low birth weight (VLBW) infants: Up to 150 cal/kg/day

*

Sensory Impaired (hearing, vision)

Mood disorder (depression)

Learning disability

Conduct disorder

ADHD

Until age 4–6 months, infants should be given only breast milk or formula. Plain water

should not be given for hydration until infant is eating solid foods.

Eating disorder:

Physical findings (in typical order of appearance)

1. Weight loss or failure to gain

2. In females, amenorrhea

3. Bradycardia. While mostly asymptomatic, the bradycardia may lead to decreased cardiac output severe enough to lead to postural hypotension.

Patient must be hospitalized at this point for intensive treatment to

prevent further progression and for nutritional stabilization.

4. If the illness continues to progress, then electrolyte abnormalities beginto manifest.

5. While patient may have several issues related to the malnutrition, including hypoalbuminemia, hypoglycemia, or hyponatremia (due to excessive water intake), these do not tend to be severe enough to lead to significantimmediate complications

17 year old

Fatigue

Heavy periods

History of frequent nosebleeds

Otherwise negative medical history

Family history of hypothyroidism

Family history of anemia

Differential dx?

Depression

Hypothyroidism

Anemia

Substance abuse

Bleeding disorder

A bleeding disorder leading to anemia:

 *A bleeding disorder—disorder of platelets or clotting factors—is a more specific diagnosis.

*Because of themuch more rapid loss of hemoglobin, fatigue is more likely to occur with a bleeding disorder than a chronic anemia.

*Bleeding disorders commonly cause metrorrhagia. As many as 1 in 5 women with heavy, prolonged periods has a bleeding disorder.

Von Willebrand's disease(vWD): 

*The most common hereditary bleeding disorder, occurring in approximately 1% of the population.

*There are three types: The 1st and 2nd types are transferred via autosomal dominant inheritance with variable penetrance. The 3rd type is much less common and is inherited as an autosomal recessive trait.

*Type 1 vWD is the most common (70%) and the mildest type.

*The bleeding is generally not life-threatening.

Complete blood count (CBC) with platelets

Red blood cell indices

Reticulocyte count: Indicates the rate of red blood cell formation and

rules out hemolytic anemia

Prothrombin time (PT): Specifies a problem with the extrinsic limb of the

coagulation system

Partial thromboplastin time (PTT): Specifies a problem with the intrinsic

limb of the coagulation system

Platelet function test (which has largely replaced the bleeding time in

most centers)

Factor VIII level and activity

vWF antigen

vWF activity (also known as Ristocetin cofactor): Low factor VIII activity,

low vWF quantity, and low vWF activity confirms vWD.

*Referral to hematologist

*Treatment for bleeding most often consists of intranasal/ intravenous desmopressin. Sometimes human plasma–derived vWF concentrate may be administered.

*For menorrhagia, combination contraceptive pills or levonorgestrel intrauterine device.

Breastfeeding infants need vitamin D supplementation (formula and milk are already supplemented).

Most cost-effective method is with a multivitamin.

Requires 100 calories/kg/day, with

approximately 75% of calories from breast milk or formula (i.e., 24–28 oz per

day)

*School failure

*Diagnosed with ADHD six monthsago

*Started on methylphenidate(Ritalin)

*Family history of father with diabetes mellitus and hypertension

*Obesity (BMI 25.4, > 97th percentile)

*Prehypertension (BP 120/74)

Differential Dx?

Sensory impairment

Sleep disorder

Mood disorder

Learning disability

Conduct disorder

There is no laboratory test. Diagnosis of ADHD is based on a set of

characteristic clinical findings. Core symptoms:

Inattention

Hyperactivity

Impulsivity

Symptoms of DM (polyuria, polydipsia, polyphagia or weight

loss), plus random blood glucose level > 200 mg/dL (> 11.1 mmol/L)

Or,

Fasting serum glucose > 126 mg/dL (> 7.0 mmol/L)

Or,

2-hour serum glucose > 200 mg/dL (> 11.1 mmol/L) during oral glucose tolerance test

Most blood pressure elevation in children > age 6 years and in adolescents

is due to primary hypertension, for which obesity has been found to be an

important correlate.

Weight age = Age at which weight plots at 50th percentile (Pro: Useful visual tool. Con: Does not take child’s height into account.)

BMI = (weight in kg)/(height in meters)2

BMI better reflects the amount of body fat compared with weightfrom muscle or bone than weight-for-height measurements.

Inadequate sleep—due to obstructive sleep apnea,

narcolepsy, or poor sleep hygiene—may adversely affect school performance. Patients with ADHD often have poor sleep hygiene, but typically do not seem overtired.

The prevalence of mood disorders increases with age.

Depression affects an estimated 1–2% of elementary school age children and 5% of adolescents. Depressive symptoms may mimic inattention.

Childhood depression has high rate of conversion to bipolar disorder, which may look like hyperactivity.

Children with ADHD have a higher rate of mood disorders than control populations. These disorders may mimic or accompany ADHD.

 A disorder of cognition that manifests itself as a problem involving academic skills. Learning disabilities clearly impair academic performance, but may also lead to behavioral and attention problems, particularly at school. Poor school performance frequently prompts the evaluation for ADHD. Inattention may stem from an inappropriate classroom assignment. An educational assessment should be part of the evaluation for

any child with behavioral problems and poor school performance.