Matta André Palma da Cunha, Ribas Márcia Cristina Antunes
Serviço de Neurologia, Hospital Universitário, Faculdade de Medicina, Universidade Federal Fluminense, Niterói, RJ, Brazil.
Arq Neuropsiquiatr. 2007 Mar;65(1):161-3. doi: 10.1590/s0004-282x2007000100033.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare disease that has been recently described. It must be remembered as a possible etiology of leukoencephalopathies in children. We describe a typical case of H-ABC in a 11-month-old boy. He presents with global development delay, oral dyskinesia, and global dystonia and spasticity. Magnetic resonance imaging disclosed typical features of H-ABC and clinical laboratory tests were all negative. A slow neurological deterioration has been detected with worsening of involuntary movements.
基底节和小脑髓鞘形成不良伴萎缩（H-ABC）是一种最近才被描述的罕见疾病。必须记住它是儿童白质脑病的一种可能病因。我们描述了一名11个月大男孩的典型H-ABC病例。他表现为全面发育迟缓、口部运动障碍以及全身性肌张力障碍和痉挛。磁共振成像显示了H-ABC的典型特征，临床实验室检查均为阴性。随着不自主运动的加重，已检测到神经功能缓慢恶化。
