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Hereditary recurrent brachial plexus neuropathy with dysmorphic features.

E M Airaksinen, M Iivanainen, P Karli

Acta Neurologica Scandinavica

|April 1, 1985

Summary

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Recurrent brachial plexus neuropathy, a genetic disorder, causes repeated upper limb weakness and pain. This study identifies an autosomal dominant inheritance pattern with tomaculous neuropathy, suggesting Schwann cell abnormalities.

Area of Science:

Neurology
Genetics
Pathology

Background:

A Finnish family with a history of recurrent brachial plexus neuropathy across three generations was studied.
The condition presents with recurrent episodes of upper limb pain, weakness, and atrophy, often starting in childhood after mild infections.

Observation:

Affected individuals exhibited characteristic facial features: hypotelorism, small palpebral fissures, and a small oral opening.
Pedigree analysis suggested autosomal dominant inheritance with high penetrance for this neuropathy.

Findings:

Sural nerve biopsy in an affected member revealed tomaculous neuropathy, despite symptoms being limited to the upper limbs.
The findings indicate a genetically determined generalized Schwann cell abnormality as the underlying cause.

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Implications:

This genetic abnormality likely predisposes individuals to recurrent palsies triggered by external factors.
Understanding the genetic basis of Schwann cell dysfunction is crucial for managing this rare neurological disorder.