Pelizaeus-merzbacher disease: the first genetically approved case report from iran.
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.


METHODS
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.


CONCLUSIONS
The possibility of Pelizaeus-Merzbacher disease should be considered in boys with abnormal eye movements, psychomotor retardation and hypotonia.
Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran ; Division of Pediatric Neurology, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran.
Mahmoud-Reza
MR
Ashrafi
Mahmoud
M
Mohammadi
Hooman
H
Alizadeh
Ali
A
Nikkhah