First Aid Eponymdromes

Front 1

Kartagener's syndrome

Back 1

immotile cilia due to DYNEIN arm defect. Infertility, bronchiectasis, recurrent sinusitis, situs inversus

Front 2

Ehlers-Danlos syndrome

Back 2

faulty collagen synthesis (usually type III-->blood vessel instability); hyperextensible skin, easy bruising, hypermobile joints; assoc'd with Berry aneurysms

Front 3

Fabry's dz

Back 3

XR, alpha-galactosidase def-->accum of ceradmide trihexoside; peripheral neuropathy, angiokeratomas, CV/renal dz

Front 4

Gaucher's dz

Back 4

beta-glucocerebrosidase def-->glucocerebroside; AR; hepatosplenomegaly, aseptic necrosis of femur

Front 5

Niemann-Pick dz

Back 5

Sphingomyelinase def-->sphongomyelin; AR; progressive neurodegeneration, cherry-red spot

Front 6

Tay-Sachs dz

Back 6

AR; hexosaminidase A def-->GM2ganglioside; progressive neurodegen'n, developmental delay, cherry red spot, lysozymes with onion skin

Front 7

Krabbe's dz

Back 7

AR; beta-galactosidase def-->galactocerebroside; peripheral neuropathy, developmental delay, optic atrophy

Front 8

Hurler's syndrome

Back 8

AR; alpha-L-uduronidase def-->heparin, dermatan sulfates; developmental delay, GARGOYLISM, airway obstruction, corneal clouding

Front 9

Hunter's syndrome

Back 9

XR; iduronate sulfatase def-->heparan, dermatan sulfates; mild Hurler's + aggressive behavior, no corneal clouding

Front 10

Prader-Willi syndrome

Back 10

mental retardation, obesity, hypogonadism, hypotonia; ex of GENOMIC IMPRINTING (dad)

Front 11

Angelman syndrome

Back 11

mental retardation, seizures, ataxia, inappropriate laughter; ex of GENOMIC IMPRINTING (mom)

Front 12

Von Hippel-Lindau dz

Back 12

VHL gene del on 3p;hemangioblastomas of retina/cerebellum/medulla; assoc'd with renal cell carcinoma

Front 13

Edwards syndrome

Back 13

trisomy 18; severe MR, micrognathia, rocker bottom feet, congenital HD, clenched hands, ave lifespan ~2-3months; assoc'd with pyloric stenosis, horshoe kidney

Front 14

Patau syndrome

Back 14

trisomy 13; sever MR, micro-ophth/cephaly, cleft lip/palate, abnl forebrain structures (holoprosencephaly?), polydactyly, congenital HD, death w/I 1 year

Front 15

Hansen's dz

Back 15

M.leprae; either lepromatous (failed cell-mediated immunity, lots of bacilli, leonine facies) or tuberculoid (self-limited); tx: dapsone (hemolysis, methemoglobinemia);

Front 16

DiGeorge syndrome

Back 16

T cell immune def.; CATCH-22; 22q11 del

Front 17

Wiskott-Aldrich syndrome

Back 17

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

Hint 17

None

Front 18

Job's syndrome

Back 18

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

Front 19

Eisenmenger's syndrome

Back 19

uncorrected VSD/ASD/PDA-->progressive pulmonary HTN; late cyanosis b/c shunt reverses (clubbing and polycythemia)

Front 20

Dressler's syndrome

Back 20

several weeks post MI get fibrinous pericarditis (autoimmune phenom)

Front 21

Loffler's endocarditis

Back 21

endomyocardial fibrosis, eosinophilia-->restrictive cardiomyopathy;

Front 22

Wolff-Parkinson-White syndrome

Back 22

accessory conduction pathway from atria to V bypasses AV node-->delta wave, maybe supraventricular tachycardia; (amiodarone safe tx forthis)

Front 23

Conn's syndrome

Back 23

primary hyperaldosteronism; HTN, hyPOkalemia, metab alkalosis, LOW plasma renin

Front 24

Sheehan's syndrome

Back 24

postpartum hypopituitarism; may cause: fatigue, anorexia, poor lactation, loss of pubic/axillary hair

Front 25

Sipple's syndrome

Back 25

MEN Iia; medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism

Front 26

Wermer's syndrome

Back 26

MEN I; pancreatic, parathyroidic, pituitaric hyperplasia/tumors

Front 27

Zollinger-Ellison syndrome

Back 27

gastrin-secreting tumor of pancraes or duodenum; recurrent ulcers

Front 28

Boerhaave's syndrome

Back 28

lower esophageal rupture-->gastric contents in pleural space; follows straining and vomiting;

Front 29

Whipple's dz

Back 29

infectin with Tropheryma whippelii; PAS+macrophages in intestinal lamina propria, mesenteric nodes-->arthralgias, cardiac and neuro sxs

Front 30

Gardner's syndrome

Back 30

colorectal cancer with soft tissue and osseous tumors, retinal hyperplasia

Front 31

Turcot's syndrome

Back 31

colorectal cancer with CNS involvements

Front 32

Peutz-Jeghers syndrome

Back 32

benign polyposis with increased risk of other malignancies; hyperpigmented buccal mucosa, lips, hands, genitalia

Front 33

Budd-Chiari syndrome

Back 33

occlusion of IVC or hepatic veins with centrilobular congestion and necrosis-->congestive liver dz; assoc'd with PV, preggers, hepatocellular carcinoma

Front 34

Wilson's dz

Back 34

AR, csome 13; inadequate hepatic copper excretion; asterixis, basal ganglia degn'n (lentiform nucleus), carcinoma, choreiform movements, dementia

Front 35

Gilbert's syndrome

Back 35

mildly dec'd UDP-glucuronyl transferase-->unconjugated hyperbilirubinemia if stressed

Front 36

Crigler-Najjar syndrome

Back 36

absent UDP-glucuronyl transferase-->bad unconjugated hyperbiliruibinemia

Front 37

Dubin-Johnson syndrome

Back 37

conjugated hyperbilirubinemia + black liver; due to defective liver excretion

Front 38

Rotor's syndrome

Back 38

conjugated hyperbilirubinemia but w/o black liver and milder than Dubin-Johnson

Hint 38

None

Front 39

Reye's syndrome

Back 39

fatal childhood hepatoencephalopathy; microvesicular fatty liver, hypoglycemia, coma; assoc'd with viruses (VZV, influenza B) and salicylates

Front 40

Paget's dz

Back 40

of bone--osteitis deformans, increase activity in both o'blasts and o'clasts; of nip--eczema, underlying ductal carcinoma

Front 41

Albright's syndrome

Back 41

polyostotic fibrous dysplasia with unilateral pigmented lesions and precocious puberty in girls, short stature

Front 42

Sjogren's syndrome

Back 42

dry eyes, dry mouth, arthritis; SS-A(Ro), SS-B(La) abs

Front 43

Reiter's syndrome

Back 43

can't see, can't pee, can't climb a tree

Front 44

Kawasaki dz

Back 44

acute self-limiting dz of kids; acute necrotizing vasculitis of sm/med vessles. Strawberry tongue; may--> coronary aneurysms

Front 45

Erb-Duchenne

Back 45

traction or tear of upper trunk (C5, C6) of brachial plexus-->waiter's tip hand;

Front 46

Klumpke's

Back 46

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

Front 47

Foster-Kennedy syndrome

Back 47

ipsi anosmia, ispi optic atrophy, contra papilledema; usually due to anterior fossa meningioma

Front 48

Pick's dz

Back 48

frontal and temporal lobe problem-->dementia, aphasia, parkinsonism; Pick bodies= intracellular aggregated tau protein

Front 49

Werdnig-Hoffmann dz

Back 49

AR, anterior horns degen'n; floppy baby, tongue fasciculations

Front 50

Guillain-Barre syndrome

Back 50

acute idiopathic polyneuritis, motor>sensory; assoc'd with C.jejuni infxns (and others); albuminocytologyic dissoc'n

Front 51

Arnold-Chiari

Back 51

(malform'n) beaking of tectal plate, aqueductal stenosis, kinking of medulla, cerebellar tonsil herniation; often w/meningomyelocele

Front 52

Dandy-Walker

Back 52

(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

Front 53

Horner's syndrome

Back 53

ptosis, miosis, anhydrosis

Front 54

Brown-Sequard syndrome

Back 54

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)

Front 55

Potter's syndrome

Back 55

bilateral renal agenisis-->oligohydramnios-->limb deformities, facial deformitis, pulmonary hyPOplasia (due to malform'n of ureteric bud)

Front 56

Goodpasture's syndrome

Back 56

linear IF, anti-GBM Abs; hemoptysis, hemturia

Front 57

Berger's dz

Back 57

IgA nephropathy, mesangial deposits of IgA, often postinfectious

Front 58

Alport's syndrome

Back 58

Collagen IV mutation--> split BM, nerve deafness, ocular d/o

Front 59

Fanconi's syndrome

Back 59

defect in proximal tubule transport of aa, glucose, phosphate, urate, protein, electrolyes. Assoc'd with Rickets, osteomalacia, hypokalemia, metabolic acidosis

Front 60

Klinefelter's syndrome

Back 60

XXY; dysgenesis of seminiferous tubules--> dec'd inhibit--> inc'd FSH; abnl Leydig cell fxn--> dec'd testosterone--> inc'd LH--> inc'd estrogen

Front 61

Turner's syndrome

Back 61

XO; streak ovaries, webbing of neck, coarctation of aorta, most common cause of primary amenorrhea

Front 62

Bowen dz

Back 62

carcinoma in situ of penis--solitary crust plaque, usually on shaft or scrotum; invasive SCC <10%

Front 63

Erythroplasia of Queyrat

Back 63

carcinoma in situ of penis--red velvety plaque, usually glans

Front 64

Bartter's syndrome

Back 64

hyperreninemia, defect in Na-K-2Cl cotransporter

Hint 64

None

Front 65

Bernard-Soulier dz

Back 65

defect in platelet adhesion

Front 66

Bruton's dz

Back 66

Xlinked agammaglobulinemia

Front 67

Cori's dz

Back 67

alpha-1,6-glucosidase deficiency

Front 68

VonGierke's dz

Back 68

glucose-6-phosphatase def--> severe fasting hypoglycemia, inc'd glycogen in liver, inc'd blood lactate, hepatomegaly (liver becomes like muscle!)

Front 69

Pompe's dz

Back 69

alpha-1,4-glucosidase def--> cardiomegaly and other--> early death

Front 70

McArdle's dz

Back 70

skeletal muscle glycogen phosphorylase def--> painful muscle cramps, myoglobinuria w/ exercise

Front 71

Kluver-Bucy syndrome

Back 71

bilateral ablation of anterior temporal lobes (including amygdaloid nuclei)--> psychic blindess, hyperphagia, docility, hypersexuality

Front 72

Parinaud's syndrome

Back 72

dorsal midbrain syndrome; pineal region -oma--> paralysis of upward gaze, absence of convergence, compression of cerebral aqueduct--> noncommunicating hydrocephalus

Front 73

Benedikt syndrome

Back 73

paramedian midbrain syndrome; ipsi oculomotor paralysis, contra cerebellar dystaxia and intention tremor (dentothalamic fibers), contra loss of tactile sensation from body (medial lemniscus)

Front 74

Weber syndrome

Back 74

ipsi oculomotor paralysis (CN III nerve roots), contra spastic hemiparesis (CST), contra weakness of lower face (CBT) (from occlusion of posterior cerebral artery)

Front 75

Shy-Drager syndrome

Back 75

orthostatic hypotension, anhydrosis, impotence, bladder atonicity (pregang symp neurons from intermediolateral cell column)

Front 76

Mallory-Weiss syndrome

Back 76

esophagogastric lacerations from too much barfing

Front 77

Peyronie's dz

Back 77

penile fibrosis

Front 78

Plummer-Vinson syndrome

Back 78

Fe deficiency anemia, esophageal web, inc'd risk for oropharynz/esophageal carcinoma

Front 79

Sezary syndrome

Back 79

cutaneous T cell lymphoma

Front 80

Wallenberg's syndrome

Back 80

PICA thrombosis-->contra loss of pain/T, ipsi loss of pain/T on face, hoarseness, dysphagia, ipsi Horner's

Front 81

Riley-Day syndrome

Back 81

familial dysautonomia; AR, abnl sweating, orthostatic hypotension, difficulty feeding, pregressive sensory loss; due to loss of neurons in autonomic and sensory ganglia; (jewish kids)