Clinical Presentation 3

Question 0

Rapidly progressive leg weakness that ascends (following GI/URTI)

Answer 0

Guillain-Barre syndrome (Type 2)

Autoimmune acute inflammatory demyelinating polyneuropathy

Question 1

Pupil accommodates, but does not react

Answer 1

Argyll Robertson pupil

Neurosyphilis

Question 2

Rash on palms and soles

Answer 2

Coxsackie A
Secondary syphilis
Rocky mountain spotted fever

Question 3

Recurrent colds
Unusual eczema
High serum IgE

Answer 3

Hyper-IgE syndrome

Job’s syndrome: neutrophil chemotaxis abnormality

Question 4

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 4

Klebsiella pneumoniae

Question 5

Red urine in the morning

Fragile RBCs

Answer 5

Paroxysmal nocturnal hemoglobinuria

Question 6

Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma

Answer 6

Von Hippel-Lindau disease

Dominant tumor suppressor gene mutation

Question 7

Resting tremor
Rigidity
Akinesia
Postural instability

Answer 7

Parkinson’s disease

Nigrostriatal dopamine depletion

Question 8

Retinal hemorrhages with pale centers

Answer 8

Roth’s spots

Bacterial endocarditis

Question 9

Severe jaundice in neonate

Answer 9

Crigler-Najjar syndrome

Congenital unconjugated hyperbilirubinemia

Question 10

short stature
Increased incidence of tumors/leukemia
Aplastic anemia

Answer 10

Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Question 11

Single palm crease

Answer 11

Simian crease

Down syndrome

Question 12

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

Answer 12

Kartagener’s syndrome

Dynein arm defect affecting cilia

Question 13

Skin hyperpigmentation

Answer 13

Addison’s disease

Primary adrenocortical insufficiency causes INCREASED ACTH and ALPHA-MSH PRODUCTION

Question 14

Slow progressive muscle weakness in boys

Answer 14

Becker’s MS

X linked missense mutationin dystrophin; less severe than DMD

Question 15

Smooth, flat, moist white lesions on genitals

Answer 15

Condylomata lata

Secondary syphilis

Question 16

Splinter hemorrhages in fingernails

Answer 16

Bacterial endocarditis

Question 17

Streak ovaries
Congenital heart disease (COA PREDUCTAL)
Horseshoe kidney
Cystic hygroma at brith

Answer 17

Turner syndrome (45XO)
Short stature
Webbed neck
Lymphedema

Question 18

Sudden and swollen painful big toe joint

Tophi

Answer 18

Gout/podagra

Hyperuricemia

Question 19

Swollen gums
Mucosal bleeding
Poor wound healing
Spots on skin

Answer 19

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

Question 20

Swollen hard painful fingerjoints

Answer 20

OA

osteophytes on PIP (Bouchard’s nodes); DIP (Heberden’s nodes)

Question 21

Systolic ejection murmur

Crescendo decrescendo

Answer 21

Aortic valve STENOSIS

Question 22

Thyroid and parathyroid tumors

Pheochromocytoma

Answer 22

MEN 2A

Autosomal dominant ret mutation

Question 23

Thyroid tumors
Pheochromocytoma
GANGLIONEUROMATOSIS

Answer 23

MEN 2B

Autosomal dominant ret mutation

Question 24

Unilateral facial drooping involving forehead

Answer 24

Bell's palsy | LMN CN VII palsy

Question 25

Urethritis Conjunctivitis Arthritis in a male

Answer 25

Reactive arthritis (Type 3) associated with HLA B27

Question 26

Vascular birthmark | PORT WINE STAIN

Answer 26

Hemangioma | Benign, associated witb Sturge-Weber syndrome (p-ANCA)

Question 27

Vomiting blood after esophagogastric lacerations

Answer 27

Mallory-Weiss syndrome | Alcoholic and bulimic patients

Question 28

"Waxy" | Casts with very low urine flow

Answer 28

Chronic ESRD

Question 29

WBC CASTS IN URINE

Answer 29

Acute pyelonephritis

Question 30

``` Weight loss DiarrheA ARTHRITIS Fever ADENOPATHY ```

Answer 30

Whipple's disease | Tropheryma whippelii

Question 31

Worst headache of my life

Answer 31

Subarachnoid hemorrhage | Bridging veins