DETECTION OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIESAMONG PATIENTS WITH ACUTE PAINLESS MONONEUROPATHY OR PLEXOPATHY

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathie s or brachial plexopathies, commonly associated with a chromosome 17p1 1.2-12 deletion encompassing the peripheral myelin protein-22 (PMP22) gene. We tried to identify criteria distinguishing HNPP among patients with acute painless mononeuropathy/plexopathy. We investigated by pul sed-field gel electrophoresis the presence of the deletion in 27 patie nts with isolated or recurrent acute painless mononeuropathy or brachi al plexopathy, and no obvious cause of neuropathy. Eight patients carr ied the deletion, whereas 19 had neither the deletion nor mutations in the PMP22 gene. Age at onset, presenting modality, precipitating even ts, and rate of recovery did not significantly differ in the two group s. Family history was informative for HNPP diagnosis in 3 cases only. HNPP patients more often showed recurrent episodes, brachial plexopath y, and clinical or electrophysiologic involvement of other nerves. Non -HNPP patients more frequently had peroneal palsy, recent weight loss, and normal electrophysiologic examination in other nerves. Signs of g eneralized neuropathy and evidence of disease in other family member a re often subtle in HNPP and must be thoroughly investigated in patient s with acute painless mononeuropathy/plexopathy. (C) 1998 John Wiley & Sons, Inc.