Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 21, No. 3, 2011, pp. 395-398
Bioline Code: pe11066
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 21, No. 3, 2011, pp. 395-398
© Copyright 2011 Iran Journal of Pediatrics.
Pelizaeus-Merzbacher Disease: the First Genetically Approved Case Report from Iran|
Ashrafi, Mahmoud-Reza; Mohammadi, Mahmoud; Alizadeh, Hooman & Nikkhah, Ali
Background: Classic 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
Case Presentation: A 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.
Conclusion: The possibility of Pelizaeus-Merzbacher disease should be considered in boys with
abnormal eye movements, psychomotor retardation and hypotonia.
Pelizaeus-Merzbacher Disease; Eye Movements; Hypotonia; Head Nodding
Alternative site location: http://diglib.tums.ac.ir/pub/