Professional Documents
Culture Documents
CLASSIC PRESENTATIONS
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CLINICAL PRESENTATION DIAGNOSIS/DISEASE PAGE
Gout, intellectual disability, self-mutilating behavior in a Lesch-Nyhan syndrome (HGPRT deficiency, X-linked 37
boy recessive)
Situs inversus, chronic sinusitis, bronchiectasis, infertility Kartagener syndrome (dynein arm defect affecting cilia) 49
Blue sclera Osteogenesis imperfecta (type I collagen defect) 51
Elastic skin, hypermobility of joints, bleeding tendency Ehlers-Danlos syndrome (type V collagen defect, type III 51
collagen defect seen in vascular subtype of ED)
Arachnodactyly, lens dislocation (upward and temporal), Marfan syndrome (fibrillin defect) 52
aortic dissection, hyperflexible joints
Café-au-lait spots (unilateral), polyostotic fibrous McCune-Albright syndrome (Gs-protein activating 57
dysplasia, precocious puberty, multiple endocrine mutation)
abnormalities
Calf pseudohypertrophy Muscular dystrophy (most commonly Duchenne, due to 61
X-linked recessive frameshift mutation of dystrophin
gene)
Child uses arms to stand up from squat Duchenne muscular dystrophy (Gowers sign) 61
Slow, progressive muscle weakness in boys Becker muscular dystrophy (X-linked non-frameshift 61
deletions in dystrophin; less severe than Duchenne)
Infant with cleft lip/palate, microcephaly or Patau syndrome (trisomy 13) 63
holoprosencephaly, polydactyly, cutis aplasia
Infant with microcephaly, rocker-bottom feet, clenched Edwards syndrome (trisomy 18) 63
hands, and structural heart defect
Single palmar crease Down syndrome 63
Dilated cardiomyopathy, edema, alcoholism or Wet beriberi (thiamine [vitamin B1] deficiency) 66
malnutrition
Dermatitis, dementia, diarrhea Pellagra (niacin [vitamin B3] deficiency) 67
Swollen gums, mucosal bleeding, poor wound healing, Scurvy (vitamin C deficiency: can’t hydroxylate proline/ 69
petechiae lysine for collagen synthesis)
Chronic exercise intolerance with myalgia, fatigue, McArdle disease (skeletal muscle glycogen phosphorylase 87
painful cramps, myoglobinuria deficiency)
Infant with hypoglycemia, hepatomegaly Cori disease (debranching enzyme deficiency) or Von 87
Gierke disease (glucose-6-phosphatase deficiency, more
severe)
Myopathy (infantile hypertrophic cardiomyopathy), Pompe disease (lysosomal α-1,4-glucosidase deficiency) 87
exercise intolerance
“Cherry-red spots” on macula Tay-Sachs (ganglioside accumulation) or Niemann-Pick 88
(sphingomyelin accumulation), central retinal artery
occlusion
Hepatosplenomegaly, pancytopenia, osteoporosis, Gaucher disease (glucocerebrosidase [β-glucosidase] 88
avascular necrosis of femoral head, bone crises deficiency)
Achilles tendon xanthoma Familial hypercholesterolemia ( LDL receptor signaling) 94
Anaphylaxis following blood transfusion IgA deficiency 116
Male child, recurrent infections, no mature B cells Bruton disease (X-linked agammaglobulinemia) 116
CLASSIC LABS/FINDINGS
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LAB/DIAGNOSTIC FINDING DIAGNOSIS/DISEASE PAGE
AFP in amniotic fluid/maternal serum Down syndrome, Edwards syndrome 63
Large granules in phagocytes, immunodeficiency Chédiak-Higashi disease (congenital failure of 117
phagolysosome formation)
Recurrent infections, eczema, thrombocytopenia Wiskott-Aldrich syndrome 117
Optochin sensitivity Sensitive: S pneumoniae; resistant: viridans streptococci 134
(S mutans, S sanguis)
Novobiocin response Sensitive: S epidermidis; resistant: S saprophyticus 134
Bacitracin response Sensitive: S pyogenes (group A); resistant: S agalactiae 134
(group B)
Streptococcus bovis bacteremia Colon cancer 137
Branching gram ⊕ rods with sulfur granules Actinomyces israelii 139
Hilar lymphadenopathy, peripheral granulomatous lesion Ghon complex (1° TB: Mycobacterium bacilli) 140
in middle or lower lung lobes (can calcify)
“Thumb sign” on lateral neck x-ray Epiglottitis (Haemophilus influenzae) 142
Bacteria-covered vaginal epithelial cells “Clue cells” (Gardnerella vaginalis) 148
Cardiomegaly with apical atrophy Chagas disease (Trypanosoma cruzi) 158
Atypical lymphocytes EBV 165
Enlarged cells with intranuclear inclusion bodies “Owl eye” appearance of CMV 165
Heterophile antibodies Infectious mononucleosis (EBV) 165
Intranuclear eosinophilic droplet-like bodies Cowdry type A bodies (HSV or VZV) 166
Eosinophilic globule in liver Councilman body (viral hepatitis, yellow fever), represents 168
hepatocyte undergoing apoptosis
“Steeple” sign on frontal CXR Croup (parainfluenza virus) 170
Eosinophilic inclusion bodies in cytoplasm of Negri bodies of rabies 171
hippocampal and cerebellar neurons
Ring-enhancing brain lesion on CT/MRI in AIDS Toxoplasma gondii, CNS lymphoma 177
Psammoma bodies Meningiomas, papillary thyroid carcinoma, 211
mesothelioma, papillary serous carcinoma of the
endometrium and ovary