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Pelizaeus-Merzbacher disease - A rare dreadful disease

Author(s): Siddharth Mahajan | Parama Sahoo

Journal: El Mednifico Journal
ISSN 2307-7301

Volume: 1;
Issue: 2;
Start page: 55;
Date: 2013;
Original page

Keywords: Pelizaeus-Merzbacher disease | Psychomotor retardation

Pelizaeus-Merzbacher Disease is a rare X-linked disorder resulting in neural insult due to lack of myelin deposition. Clinically patients can present with head tilt/nodding, pendular nystagmus, tremors, psychomotor retardation and hypotonia. The disease is associated with mutation in the PLP gene. Here we present a case of with head tilt, abnormal eye movements and psychomotor retardation. 
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