Memorize Classic Presentations Flashcards
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Elastic skin, hypermobility of joints, bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
Single palmar crease
Down syndrome
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
Achilles tendon xanthoma
Familial hypercholesterolemia ( LDL receptor signaling)
Anaphylaxis following blood transfusion
IgA deficiency
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
“Strawberry tongue”
Scarlet fever Kawasaki disease
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Pupil accommodates but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (2° syphilis)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
Back pain, fever, night sweats
Pott disease (vertebral TB)
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Continuous “machine-like” heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
Chest pain with ST depressions on ECG
Angina (⊝ troponins) or NSTEMI (⊕ troponins)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
Painful, raised lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
Splinter hemorrhages in fingernails
Bacterial endocarditis
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)