Pelizaeus-Merzbacher-like disease: female case report

We experienced a 15-year-old female, whose healthy parents were second cousins, who was suspected of having a dysmyelinating disease involving only the central nervous system (CNS). She was noticed to have congenital pendular nystagmus, and spastic gait disturbance developed at the age of 10 years. Mild athetosis of the upper limbs and ataxia were recognized at age 13 years, and dysarthria presented at age 15. MRI and electrophysiological findings showed the characteristics of Pelizaeus-Merzbacher disease (PMD), although the extensive nerve conduction slowing of the CNS was less severe than that in male patients with PMD. No promoter or exonic mutations of proteolipid protein (PLP) gene were detected. Although this patient might be heterozygous for a mutation of the extraexonic PLP gene sequences or of other unknown X-linked PLP associated genes, we speculate that this case had a dysmyelinating disease with an autosomal recessive trait characterized by the same phenotype as that of PMD.