-
abd pain, hepatomegly and ascites is classical presentation of
Budd chairi synd (post hepatic venous thrombosis)
-
achilles tendon xanthoma is classical presentation of
familial hypercholesterolemia - dec LDL recetor signaling
-
adrenal hemorrhage, hypotension and DIC is classical presentation of
Waterhouse - Friderichsen synd (meningococcemia)
-
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints is classical presentation of
marfan's synd (fibrillin defect)
-
athelete with polycythemia is classical presentation of
secondary to erythropoeitin inj
-
back pain, fever, night sweats and weight loss is classical presentation of
pott's disease (vertebral TB)
-
bilateral hilar adenopathy, uveitis is classical presentation of
sarcoidosis (non caseating granulomas)
-
blue sclera is classical presentation of
osteogenesis imperfecta (type I collagen defect)
-
bluish line on gingiva is classical presentation of
burton's line (lead poisoning)
-
bone pain, bone enlargement, arthritis is classical presentation of
paget's disease of bone (inc osteoblastic and clastic activity)
-
bounding pulses, diastolic heart murmur, head bobbing is classical presentation of
aortic regurgitation
-
butterfly facial rash, raynaud's phenomenon in a young female is classical presentation of
SLE
-
cafe-au-lait spots, lisch nodules (iris hammartomas) is classical presentation of
NF type I (+pheochromocytoma, optic gliomas)
-
cafe-au-lait spots, polyostotic fibrous dysplasia, precoucious puberty, multiple endocrine abnormalities is classical presentation of
McCune-Albright synd (mosaic G-protein signalling mutation)
-
calf pseudohypertrophy is classical presentation of
muscular dystrophy (most commonly Duchenne's - X linked recessive deletion of Dystrophin gene)
-
cherry red spot on the macula is classical presentation of
Tay Sachs (ganglioside accumulation) or Neimann-Pick (sphingomyelin accumulation), central retinal artery occlusion
-
chest pain on exertion is classical presentation of
angina (stable -with moderate exertion, unstable - with minimal exertion)
-
chest pain, pericardial effusion/friction rib, persistent fever following MI is classical presentation of
Dressler's synd (autoimmune - mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode)
-
child uses arms to stand up from squat is classical presentation of
Gower's sign (Duchenne muscular dystrophy)
-
child with fever later develops red rash on face that spreads to body is classical presentation of
Slapped cheeks (erythema infectiosum/fifth disease: parvevirus B19)
-
chorea, dementia, caudate degeneration is classical presentation of
Huntington's disease (Autosomal dominant CAG repeat expansion)
-
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria is classical presentation of
McArdle's disease (muscle glycogen phosphorylase deficiency)
-
cold intolerance is classical presentation of
hypothyroidism
-
conjugate lateral gaze palsy, horizontal diplopia is classical presentation of
internuclear ophthalmoplegia (damage to MLF; bilateral-MS, unilateral - stroke)
-
continous machinery heart murmur is classical presentation of
PDA (closed with indomethacin; maintained/opened with misoprostol)
-
cutaneous/dermal edema due to connective tissue deposition is classical presentation of
myxedema (cause by hypothyroidism, Grave's disease [pretibial])
-
dark purple skin/mouth nodules is classical presentation of
kaposi's sarcoma (usually AIDS patients [MSM]: associated with HHV-8)
-
deep, laboured breathing/hyperventilation is classical presentation of
kussmaul breathing (DKA)
-
dermatitis, dementia, diarrhea is classical presentation of
pellagra (vit B3/niacin deficiency)
-
dilated cardiomyopathy, edema, alcoholism or malnutrition is classical presentation of
wet beriberi (thiamine/vit B1 deficiency)
-
dog or cat bite resulting in infection is classical presentation of
Pasteurella multocida (cellulitis at innoculation site)
-
dry eyes, dry mouth, arthritis is classical presentation of
Sjogren's synd (autoimmine destruction of exocrine glands)
-
dysphagia (esophageal web), glossitis, Fe deficiency anemia is classical presentation of
Plummer-Vinson synd (may progress to esophageal squamous cell carcinoma)
-
elastic skin, hypermobility of joints is classical presentation of
Ehlers-Danlos synd (type III collagen defect)
-
enlarged, hard left supraclavicular node is classical presentation of
Virchow's node (abdomina metastasis)
-
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells is classical presentation of
Sezary synd (cutaneous T cell lymphoma) or mycosis fungoides
-
facial muscle spasm upon tapping is classical presentation of
Chvostek's sign (hypocalcemia)
-
fat, female, forty and fertile is classical presentation of
cholelithiasis (gall stones)
-
fever, chills, headache, myalgia following antibiotic treatment of syphilis is classical presentation of
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
-
fever, cough, conjunctivitis, coryza, diffuse rash is classical presentation of
Measles (Morbillivirus)
-
fever, night sweats, weight loss is classical presentation of
B symptoms (staging) of lymphoma
-
fibrous plaques in the soft tissues of penis is classical presentation of
Peyronie's disease (connective tissue disease)
-
gout, mental retardation, self mutilating behavior in a boy is classical presentation of
Lesch-Nyhan synd (HGPRT deficiency, X linked recessive)
-
green yellow rings around peripheral cornea is classical presentation of
kayser-Fleischer rings (copper accumulation from Wilson's disease)
-
hamartomatous GI polyps, hyerpigmentation of mouth/feet/hands is classical presentation of
Peutz-Jeghers synd (inherited, benign polyposis can cause bowel obstruction; inc cancer risk, mainly GI)
-
hepatosplenomegaly, osteoporosis, neurologic symptoms is classical presentation of
Gaucher's disease (glucoceribrosidase deficiency)
-
hereditary nephritis, sensorineural hearing loss, cataracts is classical presentation of
Alport synd (mutation in α chain of collagen IV)
-
hyperphagia, hypersexuality, hyperorality, hyperdocility is classical presentation of
Kluver-Bucy synd (bilateral amygdala lesion)
-
hyperreflexia, hypertonia, Babinski sign present is classical presentation of
UMN damage
-
hyporeflexia, hypotonia, atrophy, fasciculations is classical presentation of
LMN damage
-
hypoxemia, polycythemia, hypercapnia is classical presentation of
"Blue bloater" (chronic bronchitis: hyperplasia of mucus cells)
-
indurated, ulcerated genital lesion is classical presentation of
- non painful: chancre (primary syphilis, Treponema pallidum)
- painful, with exudate: chancroid (Haemophilus ducreyi)`
-
infant with cleft lip/palate, microcephaly or holoprocencephaly, polydactyly, cutis aplasia is classical presentation of
Patau's synd (trisomy 13)
-
infant with failure to thrive, hepatosplenomegaly, and neurodegeneration is classical presentation of
Neimann-Pick disease (genetic sphingomyelinase deficiency)
-
infant with hypoglycemia, failure to thrive and hepatomegaly is classical presentation of
Cori's disease (debranching enzyme deficiency)
-
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defects is classical presentation of
edward's synd (trisomy 18)
-
jaundice, palpable distended non-tender gallbladder is classical presentation of
Courvoisier's sign (distal obstruction of biliary tree)
-
large rash with bull's eye appearance is classical presentation of
erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
-
lucid interval after traumatic brain injury is classical presentation of
epidural hematoma (middle meningeal artery rupture)
-
male child, recurrent infection, no mature B cells is classical presentation of
Bruton's disease (X linked agammaglobulinemia)
-
mucosal bleeding and prolonged bleeding time is classical presentation of
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
-
muffled heart sounds, distended neck viens, hypotension is classical presentation of
Beck's triad of cardiac tamponade
-
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeral teeth is classical presentation of
Gardner's synd (subtype of FAP)
-
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance is classical presentation of
pompe's disease (lysosomal α-1,4-glucosidase deficiency)
-
neonate with arm paralysis following difficult birth is classical presentation of
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury; waiter's tip)
-
no lactation postpartum, absent menstruation, cold intolerance is classical presentation of
Sheehan's synd (pituitary infarction)
-
nystagmus, intention tremors, scanning speech, bilateral internuclear ophthalmoplegia is classical presentation of
multiple sclerosis
-
oscillating slow/fast breathing is classical presentation of
Cheyne-Strokes respiration (central apnea in CHF or inc intracranial pressure)
-
painful blue fingers/toes, hemolytic anemia is classical presentation of
cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumoniae, infectious mononucleosis)
-
painful, raised red lesions on pad of fingers/toes is classical presentation of
Osler's nodes (infective endocarditis, immune complex deposition)
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