The orthopaedic manifestations of Pelizaeus-Merzbacher disease in children.

Abstract

Pelizaeus-Merzbacher disease (PMD) is a degenerative leukodystrophy of the central nervous system resulting in progressive spasticity and neurologic deterioration. Seitelberger (13) divided this rare disease into six types. Five patients with the type 1 and two patients with the type II form of PMD have been treated at the Children's Hospital of Eastern Ontario. Our study sought to identify the orthopaedic manifestations of PMD and to develop a common orthopaedic profile for these patients. All children with types I and II PMD developed spastic quadriparesis, truncal hypotonia, thoracolumbar scoliosis, soft-tissue contractures of the adductors and hamstrings, osteopenia, bilateral coxa valga, and associated hip dislocation.