A genetically proven case of Pelizaeus-Merzbacher disease: Clinicoradiological clues.

The article presents a case study of a 5-month-old boy with Pelizaeus-Merzbacher disease (PMD). Topics discussed include observation of several symptoms such as pendular nystagmus in the patient, analysis of hypomyelination through brain's magnetic resonance imaging (MRI), confirmation for PMD diagnosis through proteolipid protein 1 (PLP1) gene triplication at Xq22, initiation of PMD with genetic mutation of the PLP1 gene and consideration of hypomyelinating leukodystrophy as PMD among infants.