Classic Presentations Flashcards
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome
- HGPRT deficiency, XR
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartegener syndrome
- dynein arm defect affecting cilia
Blue sclera
Osteogenesis imperfecta
- Type I collagen defect
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome
- Type V collagen defect
- Type III collagen defect in vascular subtype
Arachnodactyly, lens dislocation (upwward), aortic dissection, hyperflexible joints
Marfan Syndrome
- fibrillin defect
Cafe-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
- XR frameshift mutation of dystrophin gene
Child uses arms to stand up from squat
Duchenne muscular dystrophy
- Gower 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 (vit B1) deficiency
Dermatitis, dementia, diarrhea
Pellagra
- niacin (vit 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, myoglobulinuria
McArdle Disease
- skeletal muscle glycogen phosphorylase deficiency
Infant with hypoglycemia, hepatomegaly
Cori Disease - debranching enzyme defiency OR Von Gierke Disease (more severe) - glucose 6-phosphatase deficiency
Myopathy (infantile hypertrophic cardiomyopathy), exercsie intolerance
Pompe disease
- lysosomal alpha-1,4-glucosidase deficiency
“cherry-red spots” on macula
Tay-Sachs - ganglioside accumulation OR Niemann-Pick - sphingomyelin accumulation OR Central retinal artery occlusion
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease
- Glucocerebroside deficiency
Achilles tendon xanthoma
Familial hypercholesterolemia
- decreased 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
OR
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
- primary syphilis - treponema pallidum
Indurated, ulcerated genital lesion - painful, with exudate
Chancroid
- haemophilus decreyi
Pupil accommodates but does not react
Neurosyphilis
- Argyll-Robertson pupil
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata
- secondary 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 palm and soles
Coxsackie A OR Secondary syphilis OR 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 appearances
- parvovirus B19
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. diff
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 depression on ECG - negative troponins
Angina
Chest pain with ST depression on ECG - positive troponins
NSTEMI
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome
- autoimmune-mediated post-MI fibrinous pericarditis
- 2wks to several months after acute episode
Painful, raised red 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