Barth Peter G, Ryan Monique M, Webster Richard I, Aronica Eleonora, Kan Alex, Ramkema Marja, Jardine Philip, Poll-The Bwee Tien
Department of Paediatric Neurology, Room # G8-211, Emma Children's Hospital/Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands.
Neuromuscul Disord. 2008 Jan;18(1):52-8. doi: 10.1016/j.nmd.2007.08.001. Epub 2007 Sep 6.
Pontocerebellar hypoplasia type 2, an autosomal recessive neurodegeneration with prenatal onset, is characterised by progressive microcephaly and chorea/dystonia and has not previously been associated with muscular involvement. The gene associated with PCH-2 is unknown. An episode of rhabdomyolysis is reported in two non-related children with PCH-2, fatal in one, precipitated by intercurrent disease. Muscle biopsies in two other PCH-2 patients, and in one rhabdomyolysis patient whose biopsy antedated this complication showed areas of myofibrillar disruption or necrosis. Postmortem muscle sampled in another case without neuromuscular symptoms revealed focal necrosis, regenerating small fibres and upregulation of HLA-ABC. Random serum creatine kinase values in six other PCH-2 patients without clinical signs of neuromuscular involvement were increased in four. Collected data provide preliminary evidence of a subclinical myopathy associated with PCH-2.
2型脑桥小脑发育不全是一种常染色体隐性遗传性产前起病的神经退行性疾病，其特征为进行性小头畸形和舞蹈症/肌张力障碍，此前未发现与肌肉受累有关。与2型脑桥小脑发育不全相关的基因尚不清楚。本文报道了2例非亲缘关系的2型脑桥小脑发育不全患儿发生横纹肌溶解症，其中1例死亡，诱因是并发疾病。另外2例2型脑桥小脑发育不全患者以及1例在出现此并发症之前接受活检的横纹肌溶解症患者的肌肉活检显示有肌原纤维破坏或坏死区域。另一例无神经肌肉症状的病例尸检肌肉样本显示有局灶性坏死、再生小纤维以及HLA-ABC上调。其他6例无神经肌肉受累临床体征的2型脑桥小脑发育不全患者中，有4例随机血清肌酸激酶值升高。收集的数据为与2型脑桥小脑发育不全相关的亚临床肌病提供了初步证据。
