Duplicación del gen PLP y forma clásica de enfermedad de Pelizaeus-Merzbacher

Abstract

Pelizaeus-Merzbacher disease (PMD) is a rare form of sudanophilic leukodystrophy which is transmitted by recessive inheritance linked to the X chromosome. It only affects the myelin of the central nervous system (CNS) and is caused by a proteolipid protein (PLP) deficit, which is coded for in Xq21.2-q22. Presentation follows a classical or connatal pattern and is associated with nystagmus, stridor and pyramidal/extrapyramidal manifestations within the framework of a clinical picture of psychomotor retardation and regression with variable clinical course and presentation. A 37-month-old male, with sever psychomotor retardation, nystagmus and choreoathetotic movements with a stationary developmental profile. An MRI scan of the brain showed severe supratentorial hypomyelination and peripheral electrophysiological explorations (EMG and NCS) were normal. The genetic study using PCR revealed duplication in the PLP gene. This observation corresponds to a classical form of PMD, which must be taken into account when associated with: 1) Psychomotor retardation; 2) Early nystagmus; 3) Pyramidal/extrapyramidal involvement; 4) Absence of peripheral neurophysiological involvement; 5) A neuroradiological pattern of hypomyelination of the CNS.