Term
|
Definition
| VHL gene mutation on 3p, AD. Congenital hemangioblastomas of retina/cerebellum/spinal cord, pheochromocytomas, renal cell carcinomas, liver/pancreas carcinomas |
|
|
Term
|
Definition
| Neurofibromatosis type 1. AD, chrom 17. Neurofibromas, Lisch nodules, cafe-au-lait spots. Neurofibromas cannot be resected unlike schwannomas. |
|
|
Term
|
Definition
| V1/V2 facial angiomas --> intracranial leptomeningeal hemangiomas. "Tram-track" calcifications on skull XR. Mental retardation, seizures. Pheochromocytomas. |
|
|
Term
|
Definition
| hemorrhagic telangiectasias. Epistaxis, GI bleed, hematuria. |
|
|
Term
Bruton's agammaglobulinemia
Defect?
Presentation?
Labs? |
|
Definition
XLR, BTK tyrosine kinase - no B cell differentiation
Recurrent bacterial infxn after 6 mo, no opsonization
Normal pro-B, no mature B, no immunoglobulins |
|
|
Term
Hyper-IgM syndrome
Defect?
Presentation?
Labs? |
|
Definition
Defective CD40L on Th cells - no class switch
Severe pyrogenic infxns early in life
High IgM, low other Igs |
|
|
Term
Selective Ig deficiency
Defect?
Presentation?
Labs? |
|
Definition
Defect in isotype switching - lack of IgA most common
Sinus and lung infections, Anaphylaxis after exposure to blood with IgA
Anti-IgA antibodies |
|
|
Term
Common Variable Immune Deficiency
Defect?
Presentation?
Labs? |
|
Definition
Defect in B-cell maturation, many causes
Can be acquired in 20s-30s. Autoimmune disease, lymphoma, sinopulmonary infections
Normal B cells, low plasma cells, low Ig |
|
|
Term
DiGeorge Syndrome
Defect?
Presentation?
Labs? |
|
Definition
22q11 deletion: failure to develop 3rd and 4th branchial pouches
CATCH-22: Cleft palate, Abnl facies, Thymic aplasia (recurrent viral/fungal infxns), Cardiac defects, Hypocalcemia (no PTH)
Low T cells, PTH, Ca, absent thymic shadow on XR |
|
|
Term
IL-12 receptor deficiency
Defect?
Presentation?
Labs? |
|
Definition
No Th1 response
Disseminated mycobacteria infxns
Low IFN-gamma |
|
|
Term
Hyper-IgE syndrome
Defect?
Presentation?
Labs? |
|
Definition
"Job's Syndrome"
Th cells don't make IFN-gamma, PMNs can't respond to chemotaxis
FATED: Facies coarse, Abscesses (noninflamed staphylococcal), Teeth (retained primary), IgE high, Dematitis (eczema)
high IgE |
|
|
Term
Chronic mucocutaneous candidiasis
Defect?
Presentation? |
|
Definition
T-cell dysfunction
Candida albicans infections of skin and mucous membranes |
|
|
Term
SCID
Defect?
Presentation?
Labs? |
|
Definition
Severe Combined Immunodeficiency
Several types: defective IL-2 receptor (XLR), adenosine deaminase deficiency, failure to synthesize MHC II antigens
Recurrent viral, bacterial, fungal, and protozoal infections. Bone marrow transplant.
Low IL2-receptor = low T cell activation.
High adenine = toxic to T and B cells |
|
|
Term
Ataxia-Telangiectasia
Defect?
Presentation?
Labs? |
|
Definition
Defect in DNA repair enzymes
Triad: Cerebellar defects (ataxia), Spider angiomas (telangiectasia), IgA deficiency
IgA deficiency |
|
|
Term
Wiskott-Aldrich syndrome
Defect?
Presentation?
Labs? |
|
Definition
XLR, Progressive deletion of T and B cells
TIE: Thrombocytopenic purpura, Infections, Eczema
High IgE and IgA, low IgM |
|
|
Term
Leukocyte adhesion deficiency (type 1)
Defect?
Presentation?
Labs? |
|
Definition
Defect in LFA-1 integrin (CD18) on phagocytes
Recurrent bacterial infxn, absent pus formation, *delayed umbilicus separation
Neutrophilia |
|
|
Term
Chédiak-Higashi syndrome
Defect?
Presentation?
Labs? |
|
Definition
AR; defect in microtubles, phagocytosis
Recurrent pyrogenic infections by staph, strep; partial albinism, peripheral neuropathy |
|
|
Term
Chronic Granulomatous Disease
Defect?
Presentation?
Labs? |
|
Definition
Lack NADPH oxidase; low superoxide and respiratory burst from PMNs
Increase susceptibility to catalase positive organisms (ESPANS)
*Negative nitroblue tetrazolium dye reduction test |
|
|
Term
Reactive Arthritis
aka?
Findings?
Cause? |
|
Definition
aka Reiter's syndrome
seronegative spondylarthropathy (no RF)
Triad: urethritis (or enteritis), conjunctivitis/uveitis, arthritis (can't see, can't pee, can't climb a tree). 20% progress to sacroilitis
Associated with HLA B27, recent GI infection with Campylobacter, Salmonella, Shigella, Yersina |
|
|
Term
Hereditary Angioedema
Mech?
Findings?
Tx? |
|
Definition
AD; low C1 esterase inhibitor. C1EI inhibits formation of activated C1 and Kallikrein, both of which lead to angioedema. Kallikrein does so by way of Kininogen->Bradykinin activation, Bradykinin is degraded by ACE.
Painless, non-pitting, well-circumscribed edema. Face, neck, lips, tongue most commonly, but internal organs possible.
Avoid ACE inhibitors, ACE needed to breakdown bradykinin and prevent some edema. |
|
|
Term
Anti-phospholipid antibody syndrome
Mech?
Labs?
Findings? |
|
Definition
Anti-phospholipid antibodies; can be seen in SLE. Will have lupus anticoagulant, prolonged PTT, false-positive VDRL test.
Venous/arterial thromboembolism, repeated miscarriages. |
|
|
Term
|
Definition
Deletion of 22q11
Apalasia of 3rd and 4th pharyngeal pouches
CATCH-22
Cleft palate
Abnl Facies
Thymic aplasia
Cardiac defects
Hypothyroidism (no PTH) |
|
|
Term
|
Definition
| cANCA positive. RPGN. Upper airway, ear, eye ulcers/inflamm. Lung lesions, hemoptysis. Arthritis. Skin lesions. Small-medium vasculitis. |
|
|
Term
|
Definition
| pANCA positive. Hypereosinophila - allergies, asthma. Mono/polyneuropathy. Purpura, ulcers in mouth/nose. Granulomas in various organs. Glomerularnerphritis. |
|
|
Term
|
Definition
| = Hamartomas in CNS, skin, organs. Cardiac rhabdomyoma, renal angiomyolipoma, subependymal giant cell astrocytoma, MR, seizures, "ash leaf spots", sebaceous adenoma, shagreen patch. AD. |
|
|
Term
|
Definition
| cross-reaction to infectious antigens, most often Campylobacter jejuni. Causes peripheral nerve demyelination. Muscle weakness, loss of deep tendon reflexes. |
|
|
Term
|
Definition
| anterior horn cell damage. LMN lesions - flaccid weakness, areflexia, muscle atrophy, fasiculation. SMN1 and SMN2 mutations (survival of motor neuron). Same neurons damaged in ALS and poliomyelitis. |
|
|
Term
|
Definition
| resembles myasthenia gravis, but gets better with activity. Antibodies against presynaptic calcium channels. Associated with SCLC paraneoplastic syndrome, thymomas. |
|
|
Term
| Polyarteritis Nodosa (PAN) |
|
Definition
| Association with HBV. Transmural vasculitis, fibrinoid necrosis. NOT pulmonary arteries. Lesions of different ages. Immune-complex mediated. B-Sx, myalgia, melena, neuro, cutaneous eruptions. |
|
|
Term
|
Definition
| proximal muscle weakness, heliotrope (purple) rash on eyelids, purple scaling knuckles (Gottron's papules). Anti-Jo1 antibodies. Dystrophic calcifications in muscle. Elevated CPK. |
|
|
Term
|
Definition
Calcinosis, Raynaud's, Esophageal dysfxn, Sclerodactyly, Telangiectasias.
Also pulmonary hypertension.
Anti-centromere antibodies, increased collagen deposition.
= Limited systemic scleroderma |
|
|
Term
|
Definition
symmetrical skin thickening, 90% with Raynauds, anti-centromere antibodies
Diffuse scleroderma = rapidly progressive, multi-organ involvement
Linear scleroderma = linear thickening only, less severe |
|
|
Term
|
Definition
| ASA use during viral febrile illness in age 5-14. Hepatic dysfunction and encephalopathy (hyperammoniemia). Microvesicular steatosis, decreased mitochondria. |
|
|
Term
|
Definition
| HFE gene, HLA1-like molecule. Affects iron absorption from digestive tract. Fairly common. High serum ferritin level, iron deposits in liver and bone marrow, pancrease damage, "bronze diabetic". Iron filled tissue stains with Prussian blue. |
|
|
Term
|
Definition
| Neisseria infection of adrenals causing circulatory collapse. |
|
|
Term
|
Definition
| thrombotic occlusion of hepatic vein - portal HTN, ascites, hepatosplenomegaly |
|
|
Term
| Wernicke-Korsakoff syndrome AKA Wernicke's encephalopathy |
|
Definition
| Triad: 1) Horizontal nystagmus/bilat abducens palsy/opthalmaplegia, 2) Ataxia (cerebellar damage) 3) Confusion, memory loss, confabulation (mamillary bodies, periqueductal gray). Caused by vitamin B1 deficiency, often seen in chronic alcoholics. B1 needed for pyruvate dehydrogenase, a-ketoglutarate dehydrogenase, thus GLUCOSE infusion w/o B1 supplement will exacerbate! |
|
|
Term
|
Definition
| Autosomal recessive, trinucleotide expansion of "frataxin", low levels of functional protein. Spinocerebellar tract degeneration/gait ataxia. Dorsal columns/DRG degeneration/loss of vibration/proprioception. Kyphoscoliosis, high arches (pes cavus). Hypertrophic cardiomyopathy. Diabetes mellitus (10%). |
|
|
Term
| Arnold-Chiari malformations |
|
Definition
| Type I (most common): Herniation of cerebellar tonsils, non-communicating hydrocephalus. Type II: Associated with lumbar myelomeningocele, tension herniation. III: occipital encephalocele. IV: no cerebellar development. Acquired Chiari I malformation seen in Ehlers-Danlos and Marfan's patients due to loose craniocervical junction. |
|
|
Term
|
Definition
| Enlarged fourth ventricle, absent cerebellar vermis, cyst at base of skull. May be a genetic ciliopathy. |
|
|
Term
|
Definition
| pituitary insufficiency following pregnancy. NOT the same as pituitary apoplexy, which is hemorrhage into an existing pituitary adenoma. Sheehan's is due to hypotension (ex. postpartum hemorrhage) causing ischemic necrosis of pituitary that enlarged during hormonal influence of pregnancy. |
|
|
Term
|
Definition
| Tropheryma whipplei, actinomyces bacterium, soil borne. Weakly gram + rod. Diarrhea, abd pain, weight loss (malabsorp), arthralgias. +/- skin darkening, nodules, CNS involvement. PAS+ macrophages. |
|
|
Term
| Alpha1-antitrypsin deficiency |
|
Definition
| predilection to emphysema - PAS+ inclusions in hepatocytes of misfolded protein -- liver damage. |
|
|
Term
| Charcot-Bouchard aneurysm |
|
Definition
| aneurysm <1mm diameter, often in basal ganglia, pons, subcortical white matter. Long standing HTN. Hemorrhagic rupture. |
|
|
Term
|
Definition
| disorders of long nerves, foot drop, claw toes, stork leg. Muscle and sensory denervation. |
|
|
Term
|
Definition
Sebaceous neoplasms + visceral malignancy
possible HNPCC subtype |
|
|
Term
|
Definition
| aka thromboangiits obliterans. Heavy smokers. Intermittent claudication, Raynauds. Associated with hypersensitivity to tobacco products. |
|
|
Term
|
Definition
| 5Ps: Pruritic, purple, planar, polygonal papules. Cause unknown. |
|
|
Term
|
Definition
| Increased volume/pressure of endolymph, sporadic rupture --> episodic tinnitus, vertigo, sensorineural hearing loss |
|
|
Term
| Duchenne muscular dystrophy |
|
Definition
| X-linked recessive. Dystrophin gene, important for connecting muscle cell to ECM. Proximal muscle weakness, "Gower's sign" - stand up by crawling up legs. Pseudohypertrphy of muscles. Contractures, skeletal deformities (scoliosis), high creatine kinase. Cognitive problems. Dilated cardiomyopathy. Symptoms appear by age 5. |
|
|
Term
| Becker muscular dystrophy |
|
Definition
| Same pathogenesis as Duchenne's, except just insufficient dystrophin instead of no dystrophin. Less severe. Variable onset - between ages 7 and 12. |
|
|
Term
| Subacute sclerosing panencephalitis |
|
Definition
Rare measles complication, persistance of immune resistant measles.
Measles infection before age 2, then 6-15 Asx years, then progressive psychoneurological degeneration.
IFN and ribavirin, but fatal if not caught early. |
|
|
Term
|
Definition
| Failure of 1st branchial arch to develop. Hypoplasia of mandible and zyogma. Cleft palate. Loss of malleus and incus. Small dysmorphic ears. Colobomas. Autosomal dominant, complete penetrance. |
|
|
Term
|
Definition
AR, mutations in ATP7B, which incorporates Cu into ceruloplasmin.
Cirrhosis and portal HTN, basal ganglia degneration and dementia/Parkinsonian sx. Kayser-Fleischer rings around cornea.
Low serum ceruloplasmin, low serum Cu, high urine Cu |
|
|
Term
|
Definition
| autoimmune --> fibrinous pericarditis several weeks post-MI |
|
|
Term
|
Definition
| 45 XO. Short stature, broad chest, neck webbing. Lymphedema, cystic hygromas. Amenorrhea, underdeveloped ovaries with no follicles. Coarctation of aorta, bicuspid aortic valve, aortic dissections as adult. |
|
|
Term
| Jervell & Lange-Nielsen Syndrome |
|
Definition
| Defects in sodium and potassium channels. Congenital long QT interval --> risk for torsades. Congenital sensorineural deafness. |
|
|
Term
| Libman-Sacks endocarditis |
|
Definition
| Complication of SLE. Wart-like, sterile lesions on both sides of valve. Most often benign, can cause mitral regurg or stenosis. |
|
|
Term
|
Definition
| Angina with rest due to coromary artery vasospasm. ST segment elevation. Use CCB. |
|
|
Term
| I-cell Disease (inclusion cell disease) |
|
Definition
| Failure of addition of mannose-6-phosphate to lysosomal proteins (targets proteins to lysosome). Enzymes secreted instead. Coarse facies, clouded corneas, restricted joints, high plasma lysosomal enzymes. |
|
|
Term
|
Definition
| Erythematous, pruritic papules, vesicles, and bullae over extensor surfaces, upper back, buttocks. Strong assoc. with celiac diease. Cross reaction of gliadin antibodies to reticulin. “herpetiformis” because looks similar to herpes infection. IgA deposits at tips of dermal papillae. |
|
|
Term
|
Definition
| Vasculitis of medium size arteries, in children (1-2 yrs). Fever, Bilateral conjunctivitis, Lymphadenopathy, Erythematous mouth/lips, “Strawberry” tongue, generalized rash starting on extremities moving centrally. Associated with long-term risk of coronary artery aneurysms. |
|
|
Term
| Paroxysmal Nocturnal Hemoglobinuria (PNH) |
|
Definition
| Ironically, not paroxysmal or nocturnal. Happening continuously, just see dark urine in morning because of concentration. Triad of hemolytic anemia, hypercoaguability (ex. Budd-Chiari), decreased RBCs and WBCs (lysis of stem cells as well). Mutation of PIG-A gene coding for glycosylphosphatidylinositol anchor. Needed for attachment of CD55 and CD59, cell-surface proteins that prevent complement activation. Deficiency of CD55 and CD59 is diagnostic. |
|
|
Term
|
Definition
| p53 heterozygosity. Multiple cancers (breast, brain, adrenal cortex, sarcomas, leukemias), early in life (<45). |
|
|
Term
|
Definition
| X linked defect, trinucleotide repeat disorder (CGG), anticipation, expansion at FMR1 gene (FragileX Mental Retardation). Affects men more severely, but can affect women as well (“protected” by second X chrom.) 2nd most common cause of genetic MR. Macro-orchidism, long face, large jaw, large ears, autism, mitral valve prolapse. |
|
|
Term
|
Definition
| Congenital microdeletion of 5p. Microcephaly, MR, high-pitched crying/mewing “cat’s cry”, epicanthal folds, cardiac abnl. |
|
|
Term
|
Definition
AR. Defective neutral amino acid transporter on renal and intestinal epithelial cells.
Low tryptophan --> low niacin synth, pellagra. |
|
|
Term
|
Definition
| Uncorrected VSD, ASD, or PDA causes compensatory RV hypertrophy. Shunt eventually reverses from L->R to R->L, leading to late presenting cyanosis. |
|
|
Term
| What is Dressler's syndrome? |
|
Definition
| several weeks post-MI, auto-immune fibrinous pericarditis |
|
|
Term
| Libman-Sacks endocarditis |
|
Definition
| Verrucous (warty) sterile vegetations on both sides of valve. Most often benign, or mitral regurg/stenosis. Seen in SLE. |
|
|
Term
|
Definition
Granulomatous vasculitis with eosinophilia
Asthma, sinusitis, skin lesions, peripheral neuropathy
p-ANCA positive |
|
|
Term
|
Definition
Granulomatous thickening of aortic arch/great vessels; "pulseless disease"
asian females < 40 yrs old
increased ESR
Fever, Arthritis, Night sweats, Myalgias, Skin nodules, Ocular disturbances, Weak pulses
FAN My Skin, OW! |
|
|
Term
|
Definition
Intestinal enterochrommaffin cells give rise to carcinoid tumors, which overproduce serotonic, kallikrein, and other hormones.
Often metabolized by liver, but if mets or escapes to systemic, produces:
skin flushing
abd cramping
nausea
vomiting
diarrhea
R sided endocardial fibrosis
bronchoconstriction
Diagnose with elevated urine 5-HIAA |
|
|
Term
|
Definition
2nd most common inherited muscle disorder, to Duchenne's.
Trinucleotide repeat disorder, CTG, AD, anticipation.
Defect in "myotonia-protein kinase".
Presentation age varies. Myotonia (sustained contraction, can't release handshake, doorknob). Cataracts common. Also frontal balding, gonadal atrophy.
Atrophy of muscle fibers, esp. type 1. No necrosis or fatty replacement, unlike Duchenne's. |
|
|
Term
| Cerebral amyloid angiopathy |
|
Definition
Causes recurrent lobar hemorrhages in elderly.
Beta-amyloid deposited in arterial wall.
Usually less severe, with focal neuro deficits. |
|
|
Term
|
Definition
Rare pancreatic endocrine tumor.
Necrolytic migratory erythema (crusty, scaling, necrotic rash typically over groin/legs). Hyperglycemia, stomatitis, cheilosis, abd pain. Elevated serum glucagon levels. |
|
|
Term
|
Definition
Rare pancreatic endocrine tumor.
Intractable diarrhea, metabolic acidosis, hypokalemia. Hypotension secondary to dehydration, vasodilation common. |
|
|
Term
|
Definition
Rare tumor of pancreatic delta cell.
Inhibits secretion of insulin, glucagon, gastrin, CCK, secretin, and GI motility.
Abdominal pain, GB stones, constipation, steatorrhea. |
|
|
Term
|
Definition
Unilateral facial pain, constant. Associated with nasal congestion, lacrimation, ptosis. Men >> women.
Last 30min-2hrs, same time each day for a few weeks. Often awaking at night, a few hours after going to sleep. Pain-free interval of months-year between attacks. |
|
|
Term
|
Definition
"Electric", "shooting" pain in V2 or V3 distribution. Happens in older people (>50), women > men.
Usually unilateral. Attack lasts seconds, may be associated with "trigger point" stimulation. Occurs repeatedly during the day, but may have intermission of months/years between episodes. Not awakening at night. |
|
|
Term
|
Definition
Primary hyperaldosteronism; ex. aldo secreting tumor
HTN, hypokalemia, metabolic alkalosis, low renin.
Fatigue, muscle weakness, headaches.
Treat with spironolactone or eplerenone, surgery. |
|
|
Term
|
Definition
apical displacement of tricuspid valve, decreased RV volume, atrialization of RV.
in utero Lithium toxicity. |
|
|
Term
|
Definition
Hyperreflexia, myoclonus, rigidity, hyperthermia, tachycardia, diaphoresis, mydriasis, diarrhea, tremor, agitation, confusion.
Most commonly occurs when SSRIs are given along with MAOIs, or if single excess dose is taken.
Tx includes serotonin receptor antagonists, ex. cyproheptadine. |
|
|
Term
|
Definition
Transmural esophageal rupture due to retching.
Similar to Mallory-Weiss, which is just mucosal lacerations. |
|
|
Term
|
Definition
| Gastric hypertrophy with protein loss, parietal cell atrophy, increase in mucous cells. Precancerous. Rugae of stomach so hypertrophied, they look like brain gyri. |
|
|
Term
|
Definition
Congenital megacolon due to failure of neural crest cell migration.
Always involves rectum (last place to migrate to!) Failure to pass meconium. Dilated colon proximal to aganglionic segment.
Increased risk in Down syndrome. |
|
|
Term
| Intestinal angiodysplasia |
|
Definition
| Tortuous dilation of vessels leading to GI bleed. More common in older patients. Cecum, terminal ileum, and ascending colon. |
|
|
Term
|
Definition
| Sporadic lesions in children < 5 yrs. Mostly in rectum. If solitary, no cancer risk. If multiple, juvenile polyposis syndrome, increased adenocarcinoma risk. |
|
|
Term
|
Definition
Autosomal dominant. Tumor suppressor gene SKT11/LKB1 (19).
Multiple benign hamartomas throughout GI tract, along with hyperpigmented mouth, lips, hands, genitalia. Associated with increased colon cancer risk and other malignancies. |
|
|
Term
|
Definition
| FAP + malignant CNS tumor. (TURcot = TURban) |
|
|
Term
|
Definition
Benign, congenital.
Cysts in collecting ducts, increase in kidney stones.
Not related to ADPKD. |
|
|
Term
|
Definition
IgA nephritis
IgA in mesangium |
|
|
Term
|
Definition
X-linked dominant.
Mutation in type IV collagen, split BM.
With nerve disorders, ocular disorders, deafness. |
|
|
Term
|
Definition
Nephroblastoma.
Early childhood.
Deletion of tumor suppressor gene WT1 on 11p.
WAGR syndrome: Wilm's tumor, Aniridia, GU malformation, mental Retardation. |
|
|
Term
Jervell and Lange-Nielsen Syndrome vs.
Romano-Ward Syndrome |
|
Definition
Both are congenital long QT syndromes. Both due to defects in K+ channels. Lead to unproved arrythmia, syncope.
J & L-N: Rare, AR, w/ neurosensory deafness.
R-W: More common, AD, w/o deafness. |
|
|
Term
| Albright's hereditary osteodystrophy |
|
Definition
AD, kidney unresponsive to PTH
Hypocalcemia, short 4th/5th digits, short stature
"pseudohypoparathyroidism" |
|
|
Term
| Bernard-Soulier syndrome? |
|
Definition
| Lack GpIb. Platelets cannot bind vWF. |
|
|
Term
| Glanzmann's thrombasthenia? |
|
Definition
| Lack GpIIb/IIIa - no fibrinogen crosslinking. |
|
|
Term
| Hereditary sideroblastic anemia |
|
Definition
X-linked defect in ALA synthase gene.
Ringed sideroblasts (RBC w/ iron laden mitochondria), high Fe, normal TIBC, high ferritin.
B6 therapy. |
|
|
Term
| Acute intermittent porphyria |
|
Definition
Lack porphobilinogen deaminase.
Accumulate porphobilinogen, ALA, uroporphyrin (in urine).
Sx: 5Ps
Painful abdomen
Pee red
Polyneuropathy
Psychological disturbance
Precipitated by drugs
Tx: glucose and heme, inhibit ALA synthase |
|
|
Term
|
Definition
Lack uroporphyrinogen decarboxylase.
Accumulate uroporphyrin - tea colored urine
Blistering cutaneous photosensitivity.
Most common porphyria. |
|
|
Term
| Idiopathic Thrombocytopenic Purpura |
|
Definition
anti-GpIIb/IIIa antibodies. Platelet destruction.
Increased megakaryocytes. |
|
|
Term
| Thrombotic thrombocytopenic purpura |
|
Definition
Antibodies to ADAMTS13 (vWF metalloprotease).
Large vWF multimers, platelet aggregation, thrombosis.
Schistocytes, high LDH (microangiopathic hemolytic anemia).
PENTAD: Neuro, Renal, Fever, Thrombocytopenia, Microangiopathic hemolytic anemia |
|
|
Term
|
Definition
Failure of GnRH secreting neurons to migrate from olfactory placode (outside CNS) to hypothalamus. Usually mutation in KAL-1 gene or FGF-1 gene.
Delayed puberty, hypogonadism, anosmia. |
|
|
Term
|
Definition
Defective growth hormone receptors.
High GH levels, low IGF-1. |
|
|
Term
|
Definition
After bilateral amygdala removal:
inappropriate sexual activity
oral fixation
hyperphagia
visual agnosia
aphasia
loss of normal anger and fear
placidity
amnesia
distractibility
seizures
dementia
ex. HSV encephalitis, TBI |
|
|
