A Genetically Proven Case of Pelizaeus-Merzbacher Disease: C
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A 5-month-old boy presented with global developmental delay, generalized looseness of the body, and jerky, chaotic eye movements. There was no history of seizures, impaired hearing, swallowing difficulty, drooling of saliva, or impaired sensation. His family history, antenatal history, and neonatal history were unremarkable. Salient features on examination were impaired cognition, pendular nystagmus, axial and appendicular hypotonia with preserved antigravity movements, brisk-deep tendon reflexes, and bilateral upgoing plantars.

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