Pelizaeus-Merzbacher Disease: A Developmental Disorder Affecting Myelin Formation in the Nervous System

Abstract

Pelizaeus-Merzbacher disease (PMD) is an X-linked developmental disorder affecting myelin formation in the nervous system and is caused by a mutation in the proteolipid protein gene associated mainly with oligodendrocytes in the CNS. Oligodendrocytes synthesize myelin in the CNS, and each myelinates up to 50 axonal segments. The proteolipid protein (PLP) is the major structural protein of CNS myelin, and comprises about 50% of the protein mass of myelin. PLP mutations are associated with early motor impairment, possibly related to the apoptosis of maturating oligodendrocytes and can be defined as an X-linked recessive leukodystrophy. The objective of the current study was to report the results of auditory evaluation, electromyographic test, two MRI scans, and genetic diagnostic test of an 18-month-old boy diagnosed with PMD. Furthermore, because little information is available regarding educational services and provision of appropriate intervention for a child with PMD; based on the information obtained from the above-mentioned results, we propose educational services and intervention for a child diagnosed with PMD.