Ozkaya Halit, Akcan Abdullah Baris, Aydemir Gokhan, Kul Mustafa, Aydinoz Secil, Karademir Ferhan, Suleymanoglu Selami
Department of Pediatrics, Gulhane Military Medical Academy Haydarpasa Teaching Hospital, Istanbul, Turkey.
Eurasian J Med. 2012 Apr;44(1):46-50. doi: 10.5152/eajm.2012.10.
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.
亚历山大病是一种罕见的常染色体隐性疾病,其特征是中枢神经系统白质退化。亚历山大病是一种脑白质营养不良,通常在幼儿期出现,但在成人中很少见。它的特征是巨脑症、脱髓鞘和多个罗森塔尔纤维。诊断该疾病需要特定的磁共振成像(MRI)检查结果和基因检测。在我们四岁患者的脑部MRI检查中,双侧白质发现了脑白质营养不良的迹象。他自出生以来就患有巨脑症。我们通过这个病例来讨论亚历山大病。