Mercimek-Mahmutoglu S, van der Knaap M S, Baric I, Prayer D, Stoeckler-Ipsiroglu S
Department of Pediatrics, University of Vienna, Vienna, Austria.
Neuropediatrics. 2005 Jun;36(3):223-6. doi: 10.1055/s-2005-865715.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap in 2002 in 7 patients aged from 2 months to 2 years. We describe a new, 42-month-old female patient who developed progressive dystonia, spasticity and oculogyric eye movements since the age of 3 months. The diagnosis was made by characteristic MRI findings including supratentorial hypomyelination and progressive atrophy of basal ganglia and cerebellum. Oculogyric eye movements have not been described in patients with H-ABC syndrome before. When compared with the normal age-related myelination patterns, the degree of hypomyelination increased progressively over the time course of 32 months, indicating arrest but not loss of myelination. The H-ABC syndrome adds to the differential diagnosis of progressive pyramidal and extrapyramidal movement disorders and to the increasing number of genetically determined hypomyelination syndromes.
基底节和小脑髓鞘形成不良伴萎缩（H-ABC）综合征是一种新的神经退行性疾病，2002年由范德克纳普首次描述，涉及7例年龄在2个月至2岁之间的患者。我们报告一名42个月大的新病例，该女性患者自3个月大起出现进行性肌张力障碍、痉挛和动眼危象。诊断依据特征性的MRI表现，包括幕上髓鞘形成不良以及基底节和小脑的进行性萎缩。此前H-ABC综合征患者中尚未有动眼危象的相关描述。与正常年龄相关的髓鞘形成模式相比，髓鞘形成不良的程度在32个月的时间进程中逐渐加重，表明髓鞘形成停滞但未丧失。H-ABC综合征增加了对进行性锥体束和锥体外系运动障碍的鉴别诊断，也使基因决定的髓鞘形成不良综合征的数量增多。
