tomaculous neuropathy (hereditary neuropathy with liability to pressure palsies)

Genetics: 1) autosomal dominant 2) large deletion involving chromosome 17p11.2 3) associated with defects in PMP22 Clinical manifestations: - recurrent transient weakness & sensory loss in the distribution of peripheral nerves that are commonly compressed a) median nerve b) ulnar nerve c) radial nerve d) peroneal nerve - episodes occur after slight traction, compression or minor trauma Laboratory: - nerve conduction studies - decreased nerve conduction velocity characteristic of demyelinating neuropathy

References

Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998