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- Mahmoud-Reza Ashrafi, Mahmoud Mohammadi, Hooman Alizadeh, and Ali Nikkhah.
- Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran ; Division of Pediatric Neurology, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran.
- Iran J Pediatr. 2011 Sep 1; 21 (3): 395-8.
BackgroundClassic Pelizaeus-Merzbacher disease is a rare x-linked disorder of proteolipid protein expression first described clinically in 1885. This disease is characterized by abnormal eye movements, very slow motor development and involuntary movements. The causative gene is PLP1.Case PresentationA 1-year-old boy was referred to our clinic due to abnormal eye movements. He had horizontal and flickering eye oscillation, psychomotor retardation, hypotonia and head nodding. We found hypomyelination in brain MRI.ConclusionThe possibility of Pelizaeus-Merzbacher disease should be considered in boys with abnormal eye movements, psychomotor retardation and hypotonia.
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