Classic presentations/labs/path findings 1st aid Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome-occlusion of IVC/hepatic veins
Achilles tendon xanthoma
Familial Hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Fredrichsen Syndrome (neisseria meningiditis)
Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints
Marfan Syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Pott’s Disease (TB)
Bilateral hilar adenopathy, uveitis, noncaseating granulomas
Sarcoidosis
Blue sclera
osteogenesis imperfecta (type 1 collagen)
Blue line on gingiva
Burton’s line-lead poisoning
Bone pain, bone enlargement, arthritis, chalkstick fractures
Pagets Disease of bone
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash, Raynaud’s in female
SLE
Cafe au lait spots, Lisch nodules (iris hamartoma)
NF type 1
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune Albright syndrome- mosaic G-protein signaling mutation
Calf pseudohypertrophy
duchenne muscular dystrophy-X linked recessive mutation of dystrophin
Cherry red spot on macula
Neimann Pick (sphingomyelin accumulation) or Tay Sachs (ganglioside accumulation) or central retinal artery occlusion
chest pain, pericardial effusion/friction rub, persistent fever following an MI
Dressler syndrome (autoimmune post-MI fibrinous pericarditis)
Child used arms to stand up from squat
Gower sign-DMD
Child with fever, develops red rash on face
Slap cheek fever- Parvovirus B19 (erythema infectiosum, 5th disease)
Chorea, dementia, caudate degeneration
Huntington Disease- CAG repeats
Exercise intolerance with myalgia, fatigue, painful cramps and myoglobinuria
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
Conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF) bilateral= MS, unilateral=stroke
continuous machinery murmur
PDA-can close with indomethacin, keep open with misopristol
cutaneous dermal edema due to connective tissue deposition
myxedema
Dark purple skin/mouth nodules
Kaposi Sarcoma HHV8
Deep, labored breathing/hyperventilation
Kussamaul breathing-DKA
Dermatitis, Dementia, Diarrhea, Death
Pellagra: Niacin (B3) deficiency
dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet Beriberi: thiamine (B1) deficiency
dry eyes, dry mouth, arthritis
Sjrogrens syndrome-destruction of exocrine glands
Dysphagia (esophageal webs), glossitis (beefy red tongue) and iron deficiency anemia
Plummer Vinson syndrome
Elastic skin, joint hypermobility
Ehlers-Danlos (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchows node- abdominal metastasis
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells (cerebriform nuclei and Pautrier microabcesses)
Sezary syndrome/Mycosis fungoides
facial muscle spasm upon tapping nerve
Chovsteks sign: indicates hypocalcemia
fever, chills, headache, myalgia following abx treatment for syphillis
Jarisch-Herxheimer reaction: rapid lysis of spirochetes resulting in toxin release)
fever, cough, conjunctivitis, choryza, rash
Measles (paramyxovirus)
fibrous plaques in soft tissue of penis
Peyronie’s Disease (connective tissue disorder)
gout, mental retardation, self mutilation behavior in young boy
Lesch Nyhan syndrome: HGPRT deficiency
Hamartomatous GI polyps, hyperpigmentation of the mouth, feet and hands
Peutz-Jeuger syndrome, increased risk of colon CA
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency
Hereditary nephritis, sensineuronal hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
Hyperphagia, hypersexuality, hyperorality, docile
Kluver Bucy syndrome-bilateral amygdala lesion
Hyporeflexia, atrophy, hypotonia, fasiculations
LMN injury
Hypoxemia, polycythemia, hypercapnia
chronic bronchitis, “Blue bloater” hyperplasia of mucus cells
infant with cleft lip/palate, microcephaly or holoprocencephaly, polydactyly, cutis aplasia
Patau syndrome: trisomy 13
infant with failure to thrive, hepatosplenomagaly, neurodegeneration
Neimann-Pick (sphingomyleinase deficiency)
Infant with hypoglycemia, failure to thrive, hepatomegaly
Cori’s disease (debranching enzyme deficiency)
infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
jaundice, palpable distended GB
Courvoisiers sign (distal obstruction of biliary tree)
lucid interval after traumatic head injury
Epidural hematoma (MMA rupture)
Boy, recurrent infections, no mature B cells
Bruton’s X linked agammaglobulinemia)
mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (lack of Gp IIb/IIIa)
muffled heart sounds, JVD, hypotension
Beck’s triad for cardiac tamponade
multiple colon polyps, osteomas, impacted teeth
Gardener’s syndrome (type of familial adenomatous polyposis)
myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
oscillating slow/fast breathing
Cheyenne-stokes (central apnea in CHF or increased ICP)
painful blue digits, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycolpasma pneumo and infectious mononucleosis)
painful red, raised lesions on pads of fingers and toes
Osler’s nodes (infective endocarditis)
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli)
palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria in a child
Henoch Schonlen purpura usually following viral illness
pancreatic, pituitary and parathyroid tumor
MEN 1
periorbital, peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
emphysema “pink puffer”
centriacinar=smoking
panacinar=alpha 1 AT deficiency
polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (proximal tubular reabsorbtion defect)
pruritic, purple, polygonal planar papules and plaques (6 p’s)
Lichen planus
ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain lesion)
pupil accommodates but does not react
Argyll Robertson pupil (neurosyphillis)
rapidly progressive leg weakness that ascends following GI/URI infection
Guillian Barre syndrome-acute autoimmune inflammatory demyelinating peripheral neuropathy
ddx for rash on palms and soles
Coxsackie A, Secondary syphillis, RMSF
recurrent colds, unusual eczema, high serum IgE
Job syndrome: hyper IgE, neutrophil chemotaxis abnormality
currant jelly sputum in alcoholic or diabetic pts
Kleb pnuemo
currant jelly stools
Intussusception in kids or acute mesenteric ischemia in adults
red urine in the morning, fragile RBC’s
Paroxysmal nocturnal hempglobinuria
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel Lindau disease (tumor suppressor gene mutation)
resting tremor, rigidity, akinesia, postural instability
Parkinson’s Disease (nigrostriatal dopamine depletion)
retinal hemorrhages with pale centers
Roth’s spots (bacterial endocarditis)
short stature, increased incidence of tumors and leukemia, aplastic anemia
Fanconi’s anemia (loss of DNA crosslink repair, progresses to AML)
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (dyenin arm defect in cilia)