Head and Neck/MSK CNS Path

Question 1

inflamm disorder of the skin + sk muscle tissue; commonly assc with underlying carcinoma (name common type)

Answer 1

dermatomyositis;

gastric carcinoma

Question 2

50 yo pt complains of a malar rash and that she can’t climb stairs or comb hair. On exam, she presents w/bilateral proximal muscle weakness; purple heliotrope rash on upper eyelids; Red Gottron papules are also present on extensor surfaces? what’s the differential (3)? What confirms one or the other?

Answer 2

Dermatomyositis: anti-Jo-1 Ab confirms;
SLE: anti-dsDNA Ab confirms
polymyositis: øskin involvement

Question 3

what 3 lab findings are important for Dermatomysositis

Answer 3

1. ↑ creatine kinase
2. ⊕ANA + ⊕anti-JO-1 Ab
3. Perimysial inflamm + atrophy (CD4 cells)

Question 4

Tx for Dermatomysositis?

Answer 4

corticosteroids

Question 5

inflammatory disorder of sk muscle w/o skin involvement***? what makes this dz different from dermatomyositis (2)?

Answer 5

endomysial inflamm (CD8 cells)
necrotic muscle fibers

Question 6

This dz is chrz’d by replacement of sk muscle by adipose tissue. Defect in what protein is responsible?

Answer 6

x lined muscular dystrophy;

defective dystrophin gene (anchors muscle cytosk)

Question 7

______ muscular dystrophy is due to mutated* dystrophy gene and tends to be milder.

Answer 7

Becker

Question 8

______ muscular dystrophy is due to deletion of dystrophy gene

Answer 8

Duchenne

Question 9

Calf pseudohypertrophy by age 1 and ↑creatine kinase is chr of what dz

Answer 9

Duchenne Musculary dystrophy

hint: proximal muscle weakness –> LE overuse –> adipose conversion (Calf pseudohypertrophy) –> distal muscle weakness

Question 10

Death in Duchenne MD results from ____ and involves myocardium

Answer 10

cardiac or respiratory failure

Question 11

Pt presents with muscle weakness that improves with rest; She complains of ptosis and diplopia. PMH is significant for recent thymoma dx. anti AChE is administered and pt improves. Dx?

Answer 11

Myasthenia Gravis

Question 12

Dz with autoAbs to post*synaptic ACh rcp at the NMJ (Myasthenia Gravis/Lambert-Eaton Syndrome)

Answer 12

Myasthenia Gravis

Question 13

Dz with autoAbs to pre*synaptic Ca+ channels at the NMJ (Myasthenia Gravis/Lambert-Eaton Syndrome)

Answer 13

Lambert-Eaton Syndrome

hint: ∆ACh release

Question 14

Why does MG improve with rest?

Answer 14

ACh accumulates –> ↑competition for postsynaptic rcp’s

Question 15

Why does L-E syndrome improve with exertion

Answer 15

exertion ↑ ECM Ca+ –> ↑ gradient to flood Ab-blocked Ca+ channels

Question 16

LE syndrome can also resolve with

Answer 16

resection of the cancer

hint: assc with paraneoplastic syndrome (small cell lung carcinoma**)

Question 17

failure of facial prominences to fuse during embryonic development results in

Answer 17

cleft lip palate

Question 18

a painful superficial ulceration in oral mucosa; presents w/grayish base + surr erythema. Resolves spont but often recurs?

Answer 18

aphthous ulcer

hint: arises dt stress

Question 19

recurrent aphthous ulcers, genital ulcers and uveitis can be classified as

Answer 19

behcet syndrome