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81 Cards in this Set

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Kartagener's syndrome
immotile cilia due to DYNEIN arm defect. Infertility, bronchiectasis, recurrent sinusitis, situs inversus
Ehlers-Danlos syndrome
faulty collagen synthesis (usually type III-->blood vessel instability); hyperextensible skin, easy bruising, hypermobile joints; assoc'd with Berry aneurysms
Fabry's dz
XR, alpha-galactosidase def-->accum of ceradmide trihexoside; peripheral neuropathy, angiokeratomas, CV/renal dz
Gaucher's dz
beta-glucocerebrosidase def-->glucocerebroside; AR; hepatosplenomegaly, aseptic necrosis of femur
Niemann-Pick dz
Sphingomyelinase def-->sphongomyelin; AR; progressive neurodegeneration, cherry-red spot
Tay-Sachs dz
AR; hexosaminidase A def-->GM2ganglioside; progressive neurodegen'n, developmental delay, cherry red spot, lysozymes with onion skin
Krabbe's dz
AR; beta-galactosidase def-->galactocerebroside; peripheral neuropathy, developmental delay, optic atrophy
Hurler's syndrome
AR; alpha-L-uduronidase def-->heparin, dermatan sulfates; developmental delay, GARGOYLISM, airway obstruction, corneal clouding
Hunter's syndrome
XR; iduronate sulfatase def-->heparan, dermatan sulfates; mild Hurler's + aggressive behavior, no corneal clouding
Prader-Willi syndrome
mental retardation, obesity, hypogonadism, hypotonia; ex of GENOMIC IMPRINTING (dad)
Angelman syndrome
mental retardation, seizures, ataxia, inappropriate laughter; ex of GENOMIC IMPRINTING (mom)
Von Hippel-Lindau dz
VHL gene del on 3p;hemangioblastomas of retina/cerebellum/medulla; assoc'd with renal cell carcinoma
Edwards syndrome
trisomy 18; severe MR, micrognathia, rocker bottom feet, congenital HD, clenched hands, ave lifespan ~2-3months; assoc'd with pyloric stenosis, horshoe kidney
Patau syndrome
trisomy 13; sever MR, micro-ophth/cephaly, cleft lip/palate, abnl forebrain structures (holoprosencephaly?), polydactyly, congenital HD, death w/I 1 year
Hansen's dz
M.leprae; either lepromatous (failed cell-mediated immunity, lots of bacilli, leonine facies) or tuberculoid (self-limited); tx: dapsone (hemolysis, methemoglobinemia);
DiGeorge syndrome
T cell immune def.; CATCH-22; 22q11 del
Wiskott-Aldrich syndrome
B cell def; Xlinked; WIPE (wiskott infections purpura eczema); inability to mount IgM response to capsular polysaccharides. assoc'd with inc'd IgA, nl IgGE, low IgM
Job's syndrome
dec'd activation of mphages due to failure of gamma-IFN production by Th cells; "cold" staph abscesses, eczema, coarse facies, retained primary teeth, high levels IgE
Eisenmenger's syndrome
uncorrected VSD/ASD/PDA-->progressive pulmonary HTN; late cyanosis b/c shunt reverses (clubbing and polycythemia)
Dressler's syndrome
several weeks post MI get fibrinous pericarditis (autoimmune phenom)
Loffler's endocarditis
endomyocardial fibrosis, eosinophilia-->restrictive cardiomyopathy;
Wolff-Parkinson-White syndrome
accessory conduction pathway from atria to V bypasses AV node-->delta wave, maybe supraventricular tachycardia; (amiodarone safe tx forthis)
Conn's syndrome
primary hyperaldosteronism; HTN, hyPOkalemia, metab alkalosis, LOW plasma renin
Sheehan's syndrome
postpartum hypopituitarism; may cause: fatigue, anorexia, poor lactation, loss of pubic/axillary hair
Sipple's syndrome
MEN Iia; medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism
Wermer's syndrome
MEN I; pancreatic, parathyroidic, pituitaric hyperplasia/tumors
Zollinger-Ellison syndrome
gastrin-secreting tumor of pancraes or duodenum; recurrent ulcers
Boerhaave's syndrome
lower esophageal rupture-->gastric contents in pleural space; follows straining and vomiting;
Whipple's dz
infectin with Tropheryma whippelii; PAS+macrophages in intestinal lamina propria, mesenteric nodes-->arthralgias, cardiac and neuro sxs
Gardner's syndrome
colorectal cancer with soft tissue and osseous tumors, retinal hyperplasia
Turcot's syndrome
colorectal cancer with CNS involvements
Peutz-Jeghers syndrome
benign polyposis with increased risk of other malignancies; hyperpigmented buccal mucosa, lips, hands, genitalia
Budd-Chiari syndrome
occlusion of IVC or hepatic veins with centrilobular congestion and necrosis-->congestive liver dz; assoc'd with PV, preggers, hepatocellular carcinoma
Wilson's dz
AR, csome 13; inadequate hepatic copper excretion; asterixis, basal ganglia degn'n (lentiform nucleus), carcinoma, choreiform movements, dementia
Gilbert's syndrome
mildly dec'd UDP-glucuronyl transferase-->unconjugated hyperbilirubinemia if stressed
Crigler-Najjar syndrome
absent UDP-glucuronyl transferase-->bad unconjugated hyperbiliruibinemia
Dubin-Johnson syndrome
conjugated hyperbilirubinemia + black liver; due to defective liver excretion
Rotor's syndrome
conjugated hyperbilirubinemia but w/o black liver and milder than Dubin-Johnson
Reye's syndrome
fatal childhood hepatoencephalopathy; microvesicular fatty liver, hypoglycemia, coma; assoc'd with viruses (VZV, influenza B) and salicylates
Paget's dz
of bone--osteitis deformans, increase activity in both o'blasts and o'clasts; of nip--eczema, underlying ductal carcinoma
Albright's syndrome
polyostotic fibrous dysplasia with unilateral pigmented lesions and precocious puberty in girls, short stature
Sjogren's syndrome
dry eyes, dry mouth, arthritis; SS-A(Ro), SS-B(La) abs
Reiter's syndrome
can't see, can't pee, can't climb a tree
Kawasaki dz
acute self-limiting dz of kids; acute necrotizing vasculitis of sm/med vessles. Strawberry tongue; may--> coronary aneurysms
traction or tear of upper trunk (C5, C6) of brachial plexus-->waiter's tip hand;
palsy; thoracic outlet syndrome; subclavian artery and inferior trunk of brachial plexus (C8,T1) compressed (by cervical rib?)--> thenar/hypothenar atrophy, interosseus atrophy, medial forearm/hand sensory deficits, radial pulse disappears if head moved opposite
Foster-Kennedy syndrome
ipsi anosmia, ispi optic atrophy, contra papilledema; usually due to anterior fossa meningioma
Pick's dz
frontal and temporal lobe problem-->dementia, aphasia, parkinsonism; Pick bodies= intracellular aggregated tau protein
Werdnig-Hoffmann dz
AR, anterior horns degen'n; floppy baby, tongue fasciculations
Guillain-Barre syndrome
acute idiopathic polyneuritis, motor>sensory; assoc'd with C.jejuni infxns (and others); albuminocytologyic dissoc'n
(malform'n) beaking of tectal plate, aqueductal stenosis, kinking of medulla, cerebellar tonsil herniation; often w/meningomyelocele
(malform'n) enormous dilation of 4th ventricle b/c foramina of Luchka, Magendie don't open; assoc'd with occipital meningocele, elevation of confluence of sinuses, agenesis of cerebellar vermis and splenium of corpus callosum
Horner's syndrome
ptosis, miosis, anhydrosis
Brown-Sequard syndrome
hemisexn of spinal cord--> ipsi UMN, ipsi dorsal column, contra spinothalamic, ipsi loss of all sensation below level of lesion, LMN signs at level of lesion (if above T1-->also Horner's)
Potter's syndrome
bilateral renal agenisis-->oligohydramnios-->limb deformities, facial deformitis, pulmonary hyPOplasia (due to malform'n of ureteric bud)
Goodpasture's syndrome
linear IF, anti-GBM Abs; hemoptysis, hemturia
Berger's dz
IgA nephropathy, mesangial deposits of IgA, often postinfectious
Alport's syndrome
Collagen IV mutation--> split BM, nerve deafness, ocular d/o
Fanconi's syndrome
defect in proximal tubule transport of aa, glucose, phosphate, urate, protein, electrolyes. Assoc'd with Rickets, osteomalacia, hypokalemia, metabolic acidosis
Klinefelter's syndrome
XXY; dysgenesis of seminiferous tubules--> dec'd inhibit--> inc'd FSH; abnl Leydig cell fxn--> dec'd testosterone--> inc'd LH--> inc'd estrogen
Turner's syndrome
XO; streak ovaries, webbing of neck, coarctation of aorta, most common cause of primary amenorrhea
Bowen dz
carcinoma in situ of penis--solitary crust plaque, usually on shaft or scrotum; invasive SCC <10%
Erythroplasia of Queyrat
carcinoma in situ of penis--red velvety plaque, usually glans
Bartter's syndrome
hyperreninemia, defect in Na-K-2Cl cotransporter
Bernard-Soulier dz
defect in platelet adhesion
Bruton's dz
Xlinked agammaglobulinemia
Cori's dz
alpha-1,6-glucosidase deficiency
VonGierke's dz
glucose-6-phosphatase def--> severe fasting hypoglycemia, inc'd glycogen in liver, inc'd blood lactate, hepatomegaly (liver becomes like muscle!)
Pompe's dz
alpha-1,4-glucosidase def--> cardiomegaly and other--> early death
McArdle's dz
skeletal muscle glycogen phosphorylase def--> painful muscle cramps, myoglobinuria w/ exercise
Kluver-Bucy syndrome
bilateral ablation of anterior temporal lobes (including amygdaloid nuclei)--> psychic blindess, hyperphagia, docility, hypersexuality
Parinaud's syndrome
dorsal midbrain syndrome; pineal region -oma--> paralysis of upward gaze, absence of convergence, compression of cerebral aqueduct--> noncommunicating hydrocephalus
Benedikt syndrome
paramedian midbrain syndrome; ipsi oculomotor paralysis, contra cerebellar dystaxia and intention tremor (dentothalamic fibers), contra loss of tactile sensation from body (medial lemniscus)
Weber syndrome
ipsi oculomotor paralysis (CN III nerve roots), contra spastic hemiparesis (CST), contra weakness of lower face (CBT) (from occlusion of posterior cerebral artery)
Shy-Drager syndrome
orthostatic hypotension, anhydrosis, impotence, bladder atonicity (pregang symp neurons from intermediolateral cell column)
Mallory-Weiss syndrome
esophagogastric lacerations from too much barfing
Peyronie's dz
penile fibrosis
Plummer-Vinson syndrome
Fe deficiency anemia, esophageal web, inc'd risk for oropharynz/esophageal carcinoma
Sezary syndrome
cutaneous T cell lymphoma
Wallenberg's syndrome
PICA thrombosis-->contra loss of pain/T, ipsi loss of pain/T on face, hoarseness, dysphagia, ipsi Horner's
Riley-Day syndrome
familial dysautonomia; AR, abnl sweating, orthostatic hypotension, difficulty feeding, pregressive sensory loss; due to loss of neurons in autonomic and sensory ganglia; (jewish kids)