Abstract
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked hypomyelinating leukodystrophy disorder caused by a mutation in the proteolipid protein 1 (PLP1) gene which is responsible for myelin formation in the central nervous system. We report a case of PMD in a male patient who initially presented with developmental delay at three months and was ultimately diagnosed at 10 years and 7 months of age. We aim to describe the initial presentation, clinical course of PMD and the investigations that aid in diagnosis so that future cases may be identified earlier. During the investigative workup of our patient, a deletion of exon 16 - an extremely rare heterozygous nucleotide variation, c.330C>T (p.D110D) - was identified, the pathogenicity of which has not been previously documented in the literature. In our report, we also aim to highlight the potential use of biotin in improving symptoms in such patients as there is currently no curative treatment available.