Cox H, Costin-Kelly N M, Ramani P, Whitehouse W P
Department of Paediatric Neurology, Birmingham Children's Hospital, UK.
Eur J Paediatr Neurol. 2000;4(3):119-23. doi: 10.1053/ejpn.2000.0279.
Dentatorubral pallidoluysian atrophy (DRPLA) belongs to the group of autosomal dominant ataxias. Central nervous system pathology and inheritance are both well characterized, although the illness is rare. The presentation of a European child affected by this illness is described. He presented at 9 years of age with intractable progressive myoclonus epilepsy against a background of learning difficulties and developed progressive hypertonicity and dementia before his death at 15 years of age. Significant histological changes in a muscle biopsy were found. There was an absence of type IIB fibres and a predominance of type I fibres. Mean fibre diameter of all the fibre types was markedly reduced. All type I fibres showed an increase in lipid droplets. No previous descriptions exist of muscle histology in DRPLA. Although at least five adult family members have symptoms consistent with a diagnosis of DRPLA, their condition had not been recognized. We therefore describe the clinical picture and histological findings.
齿状核红核苍白球路易体萎缩症（DRPLA）属于常染色体显性遗传性共济失调。尽管这种疾病较为罕见，但中枢神经系统病理学特征和遗传特征都已得到充分明确。本文描述了一名患此病的欧洲儿童的临床表现。他9岁时出现难治性进行性肌阵挛癫痫，伴有学习困难，15岁去世前逐渐发展为肌张力亢进和痴呆。肌肉活检发现了显著的组织学变化。IIB型纤维缺失，I型纤维占优势。所有纤维类型的平均纤维直径均显著减小。所有I型纤维的脂滴均增多。此前尚无关于DRPLA肌肉组织学的描述。尽管至少有五名成年家庭成员有符合DRPLA诊断的症状，但他们的病情此前未被确诊。因此，我们描述了其临床症状和组织学发现。
