Pelizaeus-Merzbacher disease-like disorder in an Indian girl with a missense variant in GJC2 gene

Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early infantile period with nystagmus, commonly associated hypotonia, delayed acquisition of motor milestones, speech delay and dysarthria. We present 7-year-old female born to nonconsanguineous marriage developmental delay. On examination, she had 22 teeth, nystagmus pseudophakia. Neurological examination showed spasticity increased deep tendon reflexes. investigation, MRI brain done at 3 years hypomyelination. Targeted exome sequencing revealed homozygous non-synonymous variation c.138C>G in exon 2 GJC2 gene. Sanger was which presence variant heterozygous state both parents. PMLD1 should be suspected any child presenting diffuse hypomyelination abnormal eye movements, especially girl PelizaeusMerzbacher phenotype pons.