| Literature DB >> 25610205 |
Halit Ozkaya1, Abdullah Baris Akcan1, Gokhan Aydemir1, Mustafa Kul1, Secil Aydinoz1, Ferhan Karademir1, Selami Suleymanoglu1.
Abstract
Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults. It is characterized by megalencephaly, demyelinization and multiple Rosenthal fibers. Specific magnetic resonance imaging (MRI) findings and genetic investigations are necessary to diagnose the disorder. Signs of leukodystrophy were found in the bilateral white matter on a brain MRI of our four-year-old patient. He had megalencephaly since birth. We use this case to discuss Alexander disease.Entities:
Keywords: Alexander disease; Leukodystrophy; Megalencephaly; Pediatric neurology
Year: 2012 PMID: 25610205 PMCID: PMC4261412 DOI: 10.5152/eajm.2012.10
Source DB: PubMed Journal: Eurasian J Med ISSN: 1308-8734