Classic presentations 2

Question 1

polyuria renal tubular acidosis type 2 growth failure electrolyte imbalances hypophosphatemic rickets

Answer 1

Fanconi’s syndrome (proximal tubular reabsorption defect

Question 2

pruritic, purple, polygonal planar papules and plaques (6 P’s)

Answer 2

Lichen planus

Question 3

ptosis miosis anhydrosis

Answer 3

Horner Syndrome (sympathetic chain lesion)

Question 4

Pupil accommodates but doesn’t react

Answer 4

Argyll Roberson pupil (neurosyphilis)

Question 5

Rapidly progressive leg weakness that ascends following GI/upper respiratory infection

Answer 5

Guillian Barre Syndrome (acute autoimmune inflammatory demyelinating polyneuropathy) - schwann cells are affected

Question 6

Rash on palms and soles

Answer 6

Coxsackie A Secondary syphillus Rocky Mountain spotted fever

Question 7

Recurrent colds unusual eczema High serum IgE

Answer 7

Hyper Ig-E Syndrome (Job Syndrome: neutrophil chemotaxis abnormality )

Question 8

Red “current jelly” sputum in alcholic or diabetic patients

Answer 8

Klebsiella penumoniae

Question 9

Red “currant jelly” stools

Answer 9

Acute mesenterie ischemia in adults Intussusception in infants

Question 10

Red, itchy, swollen rash of nipple/areola

Answer 10

Paget disease of the breast (sign of underlying neoplasm)

Question 11

Red urine in th emorning, fragile RBCs

Answer 11

Paroxysmal nocturnal hemoglobinuria

Question 12

Renal cell carcinoma (bilateral) hemangioblastomas Angiomatosis Pheochromocytoma

Answer 12

von Hippel - Lindau disease (dominant tumor suppressor gene mutation)

Question 13

Resting tremor Rigidity akinesia Postural instability

Answer 13

Parkinson Disease (nigrostriatal dopamine depletion)

Question 14

Retinal hemorrhages with pale centers

Answer 14

Roth spots (bacterial endocarditis)

Question 15

Severe jaundice in neonate

Answer 15

Crigler Najjar syndrome ( congenital unconjugated hyperbilirubinemia)

Question 16

Severe RLQ pain with palpation of LLQ

Answer 16

Rovsing sign (acute appendicitis) (what is the other sign for acute appendicitis)

Question 17

Severe RLQ with rebound tenderness

Answer 17

McBurney sign (acute appendicitis)

Question 18

Short stature increase incidence of tumors/leukemia aplastic anemia

Answer 18

Fanconi anemia ( genetic loss of DNA crosslink repair, often progresses to AML)

Question 19

Single palmar crease

Answer 19

Down Syndrome

Question 20

Situs inversus Chronic sinusitis Bronchiectasis Infertility

Answer 20

Kartagener syndrome (dyenin arm defect which affect the cilia)

Question 21

Skin hyperpigmentation hypotension fatigue

Answer 21

Addison disease (primary adrenocortical insufficiency causes increase ACTH and increase alpha MSH production)

Question 22

slow progressive muscle weakness in boys

Answer 22

Becker muscular dystrophy (X linked missense mutation of dystrophin gene) - it is less sever than Duchenne

Question 23

Small, irregular red sports on buccal/lingual mucosa with blue white centers

Answer 23

Koplik spots - seen in Measles virus; rubeola virus

Question 24

smooth, flat, moist, painless white lesions on genitals

Answer 24

Condylomata lata (secondary syphilis)

Question 25

Splinter hemorrhages in fingernails

Answer 25

Bacterial endocarditis

Question 26

Strawberry tongue

Answer 26

Scarlet fever Kawasaki disease Toxic shock syndrome

Question 27

Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphedema

Answer 27

Turner Syndrome (monosomy X) 45, XO - patient has NORMAL INTELLIGENECE

Question 28

Sudden swollen/painful big toe joint tophi

Answer 28

Gout/podagra - hyperuricemia

Question 29

Swollen gums Mucosal bleeding Poor wound healing petechiae

Answer 29

Scurvy (vitamin C deficieny) can’t hydroxylate proline/lysine for collagen synthesis

Question 30

Swollen, hard painful finger joints

Answer 30

Osteoarthritis (osteophytes on PIP = Bouchard nodes) - at DIP = Heberden nodes

Question 31

Systolic ejection murmur (crescendo-decrescendo

Answer 31

Aortic valve stenosis

Question 32

Thryoid and parathyroid tumors Pheochromocytoma

Answer 32

MEN 2A (autosomal dominant ret mutation)

Question 33

Thyroid tumors pheochromocytoma Ganglionneuromatosis

Answer 33

MEN 2B (auto. dominant ret mutation)

Question 34

Toe extension/fanning upon planter scrape

Answer 34

Babinski sign (UMN lesion)

Question 35

Unilateral facial drooping involving forehead

Answer 35

Bell’s palsy (facial nerve) - LMN CN 7 palsy

Question 36

Urethritis Conjunctivitis Arthritis in a male

Answer 36

Reactive arthritis associated with HLA B27

Question 37

vascular birthmark (port wine stain)

Answer 37

Hemangioma (benign, but associated with Sturge Weber syndrome)

Question 38

Vomiting blood following gastroesophageal lacerations

Answer 38

Mallory Weiss syndrome (alcoholic and bulimic patients)

Question 39

Weight loss Diarrhea Arthritis Fever Adenopathy

Answer 39

Whipple disease (Tropheryma whipplei) - positive for PAS - systemic tissue damage

Question 40

“Worst headache of my life”

Answer 40

Subarachnoid hemorrhage