Classic Presentations - 1 Flashcards by Em Swen

gout, intellectual disability, self-mutilating behavior in a boy

Lesh-Nyhan (HGPRT def, X-linked recessive)

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situs inversus, chronic sinusitis, bronchiestasis, infertility

kartagener syndrome (dynein arm defect affecting cilia)

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blue sclera

osteogenesis imperfecta (type I collagen defect)

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elastic skin, hypermobility of joints, inc bleeding tendency

ehlers-danlos (type IV collagen defect)

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arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

marfan syndrome

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cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

mcCune-albright (mosaic G-protein signaling mut)

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calf pseudohypertrophy

muscular dystrophy (duchenne - due to XLR frameshift mut of dystrophin gene)

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child uses arms to stand up from squat

gowers sign - duchenne

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slow progressive muscle weakness in boys

becker muscular dystrophy (X-linked missense mut in dystrophin)

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infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Patau syndrome (trisomy 13)

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infant w/ microcephaly, rocker-bottom feet, clenched hands, structural heart defect

edwards syndrome (trisomy 18)

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single palmar crease

down syndrome

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dilated cardiomyopathy, edema, alcoholism or malnutrition

wet beri beri (thiamine (B1) def)

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dermatitis, diarrhea, dementia

pellagra (niacin (B3) def)

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swollen gums, mucosal bleeding, poor wound healing, petechiae

scurvy - vit C def - can’t hydroxylate proline/lysine for collagen synthesis

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chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

McArdle disease - skeletal muscle glycogen phosphorylase def

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infant w/ hypoglycemia, hepatomegaly

cori disease (debranching enzyme) or von gierke disease (G6P) - more severe

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myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

pompe disease - lysosomal a-1,4-glucosidase def

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cherry red spots on macular

Tay sachs (ganglioside accumulation) or niemann-pick (sphingomyelin occlusion), or central retinal artery occlusion

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hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

gaucher disease (glucocerebrosidase def)

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achilles tenon xanthoma

familial hypercholesterolemia (dec LDL receptor signaling)

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anaphylaxis following blood transfusion

IgA deficiency

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male child, recurrent infections, no mature B cells

Bruton - X-linked agammaglobulinemia

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recurrent non-inflammed abscesses, unusual eczema, high serum IgE

hyper IgE syndrome - PMN chemotaxis abnormality

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strawberry tongue

scarlet fever or kawasaki dz

adrenal hemorrahge, hTN, DIC

waterhouse-friderichsen syndrome (meningococcemia)

red "currant jelly" sputum in alcoholic or diabetic pts

klebsiella pneumonia

large rash w/ bull's eye appearance

lyme disease - erythema chronicum migrans

non painful, indurated, ulcerated genital lesion

primary syphilis (treponema pallidum)

painful, indurated, ulcerated genital lesion

chancroid (H. ducreyi)

pupil accommodates but doesn't react

neurosyphilis

smooth, moist, painless, wart-like white lesions on genitals

condyloma lata (secondary syphilis)

fever, chills, headache, myalgia - following Abx treatment for syphilis

jarisch-herxheimer rxn (rapid lysis of spirochetes results in endotoxin-like release)

dog or cat bite

pasteurella multocida (cellulitis at site of inoculation)

rash on palms or soles

coxsackie A, secondary syphilis, RMSF

black eschar on face of pt w/ DKA

mucor or rhizopus fungal infection

chorioretinitis, hydrocephalus, intracranial calcifications in a newborn

congenital toxo

fever, cough, conjunctivitis, coryza, diffuse rash

measles

small, irregular red spots on buccal/lingual mucosa w/ blue-white centers

koplik spots

back pain, fever, night sweats - assoc w/ TB

Pott disease (vertebral TB)

child w/ fever later develops red rash on cheeks that spreads to body

erythema infectiosum/fifth disease (parvovirus B19)

abd pain, diarrhea, leukocytosis, recent Abx use

c diff

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

aortic regurg

systolic ejection murmur (crescendo-decrescendo)

aortic stenosis

continuous "machine-like" murmur

PDA - close w/ indomethacin, keep open w/ PGE analog

chest pain, pericardial effusion/friction rub, persistent fever following MI

dressler syndrome - autoimmune post-MI fibrinous pericarditis, 2 wks to several months after acute episode

painful, raised red lesions on pads of fingers/toes

osler nodes - immune complex deposition

painless erythematous lesions on palms and soles

janeway lesions - septic emboli

splinter hemorrhages, retinal hemorrhages w/ pale center

bacterial endocarditis

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae + tongue, hand-foot changes

kawasaki disease - treat w/ IVIG + aspirin

palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria

Henoch-schonlein purpura (IgA vasculitis affecting skin + kidneys)

telengiectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria

hereditary hemorrhagic telangiectasia

skin hyperpigmentation, hTN, fatigue

addison disease (primary adrenocortical insufficienct) - inc ACTH and inc MSH production

cold intolerance

hypothyroidism

cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

myxedema (hypothyroid, graves)

facial muscle spasm upon tapping

chvostek sign - hypocalcemia

no lactation postpartum, absent menstruation, cold intolerance

sheehan syndrome - postpartum hemorrhage leading to pituitary infarction

cutaneous flushing, diarrhea, bronchospasm

carcinoid syndrome (R sided cardiac valve lesions, inc 5-HIAA)

pancreatic, pituitary, parathyroid tumors

MEN1 (AD)

medullary thyroid tumor, parathyroid, pheo

MEN2A (AD RET mut)

medullary thyroid, marfanoid habitus, pheo

MEN2B (AD RET mut)

vomiting blood following gastroesophageal tears

mallory-weiss syndrome (alcoholic + bulimic pts)

dysphagia (esophageal webs), glossitis, iron deficiency anemia

Plummer-Vinson syndrome

enlarged, hard, L supraclavicular node

Virchow node (abdominal metastasis)

weight loss, diarrhea, arthritis, fever, adenopathy

whipple disease (tropheryma whipplei)

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

peutz-jeghers syndrome

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

gardner syndrome - subtype of FAP

severe jaundice in a neonate - congenital

crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)

congestive liver disease, assoc w/ nutmeg liver, absence of JVD

budd-chiari syndrome - post hepatic venous thrombosis

golden brown rings around peripheral cornea

wilson disease (due to copper accumulation)

Classic Presentations - 1 Flashcards

(70 cards)