Classic Presentations Flashcards
Budd-Chiari syndrome
posthepatic venous thrombosis (abdominal pain, ascites, hepatomegaly)
Familial Hypercholesterolemia (decreased LDL receptor signaling)
achilles tendon xanthoma
Waterhouse-Friderichsen Syndrome (meningococcemia)
adrenal hemorrhage, hypotension, DIC
ACL injury
Anterior “drawer sign” +
Marfan syndrome (fibrillin defect)
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Secondary to erythropoietin injection
athlete with polycythemia
Pott disease (vertebral TB)
Back pain, fever, night sweats, weight loss
Sarcoidosis (noncaseating granulomas)
bilateral hilar adenopathy, uveitis
Osteogenesis imperfecta (type I collagen defect)
blue sclera, multiple fractures
Burton line (lead poisoning)
bluish line on gingiva
Paget disease of bone (increased osteoblastic and osteoclastic activity)
bone pain, bone enlargement, arthritis
Aortic regurgitation
bounding pulses, diastolic murmur, head bobbing
Systemic Lupus Erythematosus
“butterfly” facial rash, Reynaud phenomenon in a young female
Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)
Cafe-au-lait spots, Lisch nodules (iris hamartomas)
McCune-Albright Syndrome (mosaic G protein signaling mutation)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Muscular dystrophy (usually Duchenne); X-linked recessive deletion of dystrophin gene
calf pseudohypertrophy
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation); central retinal artery occlusion
Cherry red spots on macula
Angina (stable: with moderate exertion; unstable: with minimal exrertion)
Chest pain on exertion
Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Gower’s sign (Duchenne muscular dystrophy)
Child uses arms to stand up from squat
“Slapped Cheeks” (erythema infectiousu/5th disease; parvovirus B19)
Child with fever later develops red rash on face that spreads to body
Huntington disease (autosomal dominant CAG repeat expansion)
Chorea, dementia, caudate degeneration
McArdle Disease (muscle glycogen phosphorylase deficiency)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Hypothyroidism
Cold intolerance
Internuclear ophthalmoplegia (damage to MLF; bilateral-MS; unilateral-stroke)
Conjugate lateral gaze palsy, horizontal diplopia
PDA (close with indomethacin; open or maintain with misoprostol)
Continuous “machine-like” heart murmur
Myxedema (caused by hypothyroidism, Graves disease (pretibial))
Cutaneous/dermal edema due to connective tissue deposition
Kaposi sarcoma, associated with HHV8
dark purple skin/mouth nodules in a patient with AIDS
Kussmaul respirations (diabetic ketoacidosis)
deep, labored breathing/hyperventilation
Pellagra (niacin/Vit B3 deficiency)
dermatitis, dementia, diarrhea
Wet beriberi (thiamine/Vit B1 deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Pasturella multocida (cellulitis at inoculation site)
dog or cat bite resulting in infection
Sjogren syndrome (autoimmune destruction of exocrine glands)
dry eyes, dry mouth, arthritis
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Ehlers-Danlos syndrome (Type III collagen defect)
elastic skin, hypermobility of joints
Virchow node (abdominal metastasis)
enlarged, hard left supraclavicular node
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungicides + malignant T cells in blood)
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Chvostek sign (hypocalcemia)
facial muscle spasm upon tapping
Cholelithiasis (gallstones)
fat, female, 40, fertile
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
fever, chills, headache, myalgia following antibiotic treatment for syphillis
Measles
fever, cough, coryza, conjunctivitis, diffuse rash
B symptoms (staging) of lymphoma
fever, night sweats, weight loss
Peryonie disease (connective tissue disorder)
fibrous plaques in soft tissue of penis
Lesch-Nyhan syndrome (HGPRT deficiency; X linked recessive)
gout, intellectual disability, self-mutilating behavior in a boy
Kayser-Fleischer rings (copper accumulation from Wilson disease)
Green-yellow rings around peripheral cornea
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Gaucher disease (glucocerebrosidase deficiency)
hepatosplenomegaly, osteoporosis, neurologic symptoms
Alport syndrome (mutation in collagen IV)
hereditary nephritis, sensorineural hearing loss, cataracts
Kluver-Bucy syndrome (bilateral amygdala lesion)
hyperphagia, hypersexuality, hyperorality, hyperdocility
UMN damage
hyperreflexia, hypertonia, Babinski sign present
LMN damage
hyporeflexia, hypotonia, atrophy, fasciculations
“Blue bloater” (chronic bronchitis, hyperplasia of mucosal cells)
hypoxemia, polycythemia, hypercapnia
Nonpainful: chancre (1 syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus decreyi)
indurated, ulcerated genital lesion
Patau syndrome (trisomy 13)
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Niemann-Pick disease (genetic sphingomyelinase deficiency)
infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Edwards syndrome (Trisomy 18)
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Courvoisier sign (digital obstruction of biliary tree)
jaundice, palpable distended non-tender gallbladder
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
large rash with bullseye appearance
Epidural hematoma (middle meningeal artery rupture)
lucid interval after traumatic brain injury
Bruton disease (X-linked agammaglobulinemia)
male child, recurrent infections, no mature B cells)
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
mucosal bleeding and prolonged bleeding time
Beck triad of cardiac tamponade
muffled heart sounds
distended neck veins
hypotension
Gardner syndrome (subtype of FAP)
multiple colonic polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Pompe disease (lysosomal alpha-1,4 glucosidase deficiency)
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury; waiter’s tip)
neonate with arm paralysis following difficult birth
Sheehan syndrome (pituitary infarction)
no lactation postpartum, absent menstruation, cold intolerance
Multiple sclerosis
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
oscillating slow/fast breathing
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis)
painful blue fingers/toes, hemolytic anemia
Raynaud phenomenon (vasospasm in extremities)
painful, pale, cold fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
painful, raised red lesions on pad of fingers/toes
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
painless erythematous lesions on palms and soles
Cancer of the pancreatic head obstructing bile duct
painless jaundice
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
palpable purpura on buttocks/legs, joint pain, abdominal pain (child) hematuria
MEN 1 (AD)
pancreatic, pituitary, parathyroid tumors
Nephrotic syndrome
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
“Pink puffer” (emphysema: centriacina (smoking); panacinar (alpha 1 antitrypsin deficiency)
Pink complexion, dyspnea, hyperventilation
Fanconi syndrome (proximal tubular reabsorption defect)
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets