Krabbe's disease presenting as a peripheral neuropathy

Abstract

A 13-year-old female initially presented with scoliosis and pes cavus. Initial examination revealed distal lower extremity weakness and sensory loss, as well as greater auricular nerve hypertrophy. There was a Babinski sign on the right. Nerve conduction velocities were consistent with a demyelinating neuropathy. Four years after initial presentation she developed lower extremity spasticity and bilateral Babinski signs. Magnetic resonance imaging of the brain showed diffuse white matter disease. Laboratory evaluation revealed an abnormally low galactocerebroside beta-galactosidase level. Nerve biopsy demonstrated inclusions consisting of globoid clusters and evidence of demyelination. DNA analysis was used to identify mutations consistent with Krabbe's disease. Patients presenting with an atypical peripheral neuropathy should be evaluated for Krabbe's disease.