Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2

被引：4

作者：

Zafeiriou, Dimitrios I. ^{[1
]}

Ververi, Athina ^{[1
]}

Tsitlakidou, Anastasia ^{[1
]}

Anastasiou, Athanasia ^{[2
]}

Vargiami, Euthymia ^{[1
]}

机构：

[1] Aristotle Univ Thessaloniki, Dept Pediat 1, GR-54006 Thessaloniki, Greece

[2] Ippokratio Gen Hosp, Dept Radiol, Thessaloniki, Greece

来源：

NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 02期

关键词：

Pontocerebellar hypoplasia type 2; Myopathy; Rhabdomyolysis; TSEN54; GENE;

D O I：

10.1016/j.nmd.2012.08.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, seizures, and severe cognitive impairment. Until lately it was considered a CNS-refined disease, but recent reports have associated it with muscular defects, as well. A 5-year-old boy with genetically confirmed pontocerebellar hypoplasia type 2 is described. The patient had all the clinical and radiological features of the disease, but he, additionally, exhibited two episodes of rhabdomyolysis precipitated by respiratory infections. The possible mechanisms associating encephalopathy and myopathy in pontocerebellar hypoplasia type 2 are discussed. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：116 / 119

页数：4

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