Authors: Azri Johari, Ling Lan, Harsh Kandpal.
Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy involving mutations in the proteolipid protein 1 (PLP1) gene. PMD can be classified into three subtypes based on severity; connatal (type I), transitional (type II), and classic (type III), with spastic paraplegia type 2 (SPG2) often considered a mild form of PMD. Life expectancy of PMD patients varies depending on the subtype, in which classic PMD, the most common phenotype, has a life expectancy around young adulthood. There is a paucity of reports on PMD given the rarity of the condition. We describe the disease progression of a 32-year-old male classic PMD patient with gene mutation c.56T>C in exon 2 of the PLP1 gene. The patient presented symptoms within his infancy, with a progressive decline in psychomotor and cognitive function. Despite close follow up, he was only diagnosed with PMD at the age of 18 following a brain MRI and genotyping.
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