KRABBES-DISEASE PRESENTING AS A PERIPHERAL NEUROPATHY

A 13-year-old female initially presented with scoliosis and pes cavus. Initial examination revealed distal lower extremity weakness and sens ory loss, as well as greater auricular nerve hypertrophy. There was a Babinski sign on the right. Nerve conduction velocities were consisten t with a demyelinating neuropathy. Four years after initial presentati on she developed lower extremity spasticity and bilateral Babinski sig ns. Magnetic resonance imaging of the brain showed diffuse white matte r disease. Laboratory evaluation revealed an abnormally low galactocer ebroside beta-galactosidase level. Nerve biopsy demonstrated inclusion s consisting of globoid clusters and evidence of demyelination. DNA an alysis was used to identify mutations consistent with Krabbe's disease . Patients presenting with an atypical peripheral neuropathy should be evaluated for Krabbe's disease. (C) 1997 John Wiley & Sons, Inc.