|
Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406 EISSN: 1018-4406
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
en |
Pelizaeus-Merzbacher Disease: the First Genetically Approved Case Report from Iran
Ashrafi, Mahmoud-Reza; Mohammadi, Mahmoud; Alizadeh, Hooman & Nikkhah, Ali
Abstract
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
PLP1.
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.
Keywords
Pelizaeus-Merzbacher Disease; Eye Movements; Hypotonia; Head Nodding
|
|
© Copyright 2011 Iran Journal of Pediatrics. Alternative site location: http://diglib.tums.ac.ir/pub/
|
|