A rare case of Palizaeus Merzbacher Disease in a female patient diagnosed radiologically

Pelizaeus Merzbacher s Disease is an inherited X-linked recessive trait. Males have the disease, while females are usually carriers. We report the case of a 6-years-old girl who had nystagmus since birth and later on developed head nodding. She started talking at one year and walking at 18 months. Then she developed regression of milestones, with speech impairment and inability to walk which progressively worsened. Before presenting she had a generalised seizure. Her parents were second cousins. Family history was unremarkable. On examination she was awake, alert, there was bilateral horizontal nystagmus. Cranial nerve examination was normal. There was spastic paraparesis with bilateral extensor plantar response. Magnetic resonance imaging of the brain showed classical features of diffuse hypomyelination characteristic of Pelizaeus Merzbacher s Disease for this age group.