TY - JOUR
T1 - Hereditary neuropathy with liability to pressure palsies
T2 - A case report
AU - Jafarnia, Kourosh
AU - Sullivan, Michael J.
AU - Hildreth, David H.
PY - 2001
Y1 - 2001
N2 - Hereditary neuropathy with liability to pressure palsy is a rare autosomal dominant disorder characterized by multiple episodes of focal demyelinating neuropathies after minor trauma to peripheral nerves. It usually appears in early adulthood with recurrent attacks of pain, numbness, and muscular weakness along the distribution of the clinically affected nerve. Segmental demyelination and thickenings of the myelin sheath are the pathologic findings. Electrophysiologic studies show a nonuniform mild demyelinating neuropathy with prolonged distal latencies. Genetic tests are available to aid in diagnosis as molecular analysis has identified a deletion in the chromosome 17p11.2 in the majority of these patients. There is a paucity of information in the orthopaedic literature regarding hereditary neuropathy with liability to pressure palsy. A case report is presented of a patient with this disorder to promote awareness and recognition that this entity should be considered in patients with multiple nerve palsies.
AB - Hereditary neuropathy with liability to pressure palsy is a rare autosomal dominant disorder characterized by multiple episodes of focal demyelinating neuropathies after minor trauma to peripheral nerves. It usually appears in early adulthood with recurrent attacks of pain, numbness, and muscular weakness along the distribution of the clinically affected nerve. Segmental demyelination and thickenings of the myelin sheath are the pathologic findings. Electrophysiologic studies show a nonuniform mild demyelinating neuropathy with prolonged distal latencies. Genetic tests are available to aid in diagnosis as molecular analysis has identified a deletion in the chromosome 17p11.2 in the majority of these patients. There is a paucity of information in the orthopaedic literature regarding hereditary neuropathy with liability to pressure palsy. A case report is presented of a patient with this disorder to promote awareness and recognition that this entity should be considered in patients with multiple nerve palsies.
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U2 - 10.1097/00003086-200104000-00036
DO - 10.1097/00003086-200104000-00036
M3 - Article
C2 - 11302321
AN - SCOPUS:0035082937
SN - 0009-921X
VL - 385
SP - 253
EP - 255
JO - Clinical Orthopaedics and Related Research
JF - Clinical Orthopaedics and Related Research
ER -