A 24-year-old man presents with recurrent episodes of transient focal weakness following minor compression injuries, including wrist drop after sleeping on his arm and foot drop after prolonged leg crossing. Vital signs: BP 118/76, HR 82, RR 16, Temp 37°C, SpO2 98%. His mother experienced similar episodes. Nerve conduction studies show focal demyelination at pressure-sensitive sites. Strength testing reveals no permanent deficits between episodes. He takes no regular medications. Which of the following is the most likely underlying problem?
- A)Autoantibodies against acetylcholine receptors
- B)Deletion affecting PMP22 leading to increased susceptibility to pressure palsiesGABARITO
- C)SMN1 gene deletion
- D)Toxin mediated SNARE cleavage
- E)Mutation causing absent dystrophin
Explicação
Hereditary neuropathy with liability to pressure palsies is often due to PMP22 deletion, which predisposes peripheral nerves to focal compression injuries after minor pressure. The key clue is recurrent transient mononeuropathies with a family history. Ver explicação completa e trilha adaptativa →