Paraneoplastic Disorders + SLE + Porphyria + Wilson's Disease

Question 1

in what country is prevalence of Wilsons disease higher

Answer 1

japan

Question 2

what is the prevalence of Wilsons disease

Answer 2

1/30 000 poeple

Question 3

when do sx of Wilsons disease usually start

Answer 3

between ages 5-35, average age of 17

Question 4

list neuropsych symptoms of Wilsons disease

Answer 4

tremors

muscle stiffness

aphasia

personality changes

anxiety

hallucinations

–> about 15% of patients with Wilsons disease have psych symptoms

Question 5

list GI/hepatic sx of Wilsons disease

Answer 5

vomiting

weakness

ascites

edema

jaundice

Question 6

where does copper get deposited in Wilsons disease

Answer 6

cornea

liver

basal ganglia

Question 7

in which patients would you order Wilsons disease screen

Answer 7

always in young patients presenting with TREMOR

Question 8

what should you order to test for Wilsons disease

Answer 8

Serum ceruloplasmin level (low)
Total serum copper (low, since serum ceroplasmin is low)
Free serum copper (elevated)
24-hour urinary copper excretion (elevated)
Ferritin levels (elevated)

Liver biopsy will indicate elevated copper levels

Question 9

what is the most common neuro sign of wilsons disease

Answer 9

dysarthria

Question 10

what is the typical tremor in wilsons disease

Answer 10

wing beat tremor

Question 11

what is the classic triad of acute intermittent porphyria

Answer 11

Abdominal pain,
Mental status changes, and
Autonomic dysfunction

Question 12

list the most common tumors associated with paraneoplastic limbic encephalopathy

Answer 12

SCLC (75%)

germ cell tumors

thymoma

hodgkins lymphoma

breast cancer

Question 13

what are the most common symptoms of paraneoplastic limbic encephalopathy

Answer 13

subacute cognitive (primarily amnestic) syndrome

–> depression, anxiety, personality changes, emotional lability can precede the cognitive impairment