Hereditary recurrent brachial plexus neuropathy with dysmorphic features

Abstract

A Finnish pedigree comprising 13 members in 3 generations with recurrent brachial plexus neuropathy is described. The disease was characterized by repeated attacks of pain in the upper limb/shoulder region, followed by muscle weakness and atrophy. The first episode usually occurred in childhood after a mild infection. Symptoms varied in intensity and seldom left marked neurological deficiencies. Patients had typical features including hypotelorism, small palpebral fissures and a small oral opening. The distribution of the affected members in the pedigree was compatible with autosomal dominant inheritance with high penetrance. Despite the limitation of the symptoms to the upper limbs, sural nerve biopsy showed tomaculous neuropathy in an affected member of the family. The structural changes of tomaculous neuropathy probably reflect a genetically determined generalized abnormality of the Schwann cells predisposing the patients to the recurrent palsies by exogenous factors.