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首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

机译：丙酮酸脱氢酶E2缺乏症：发作性肌张力障碍的潜在可治疗原因。

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摘要

The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency of dihydrolipoamide acetyltransferase, the E2 component of the pyruvate dehydrogenase complex, may present similarly, and that this disorder should also be considered in the differential diagnosis. We describe two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. Both have neuroimaging features similar to previously described patients and have mutations in the DLAT gene. As this condition is potentially treatable with a ketogenic diet, the possibility of this diagnosis should be considered in similar cases.
机译：进行性发作性肌张力障碍和学习障碍与独特的神经影像学发现的关联可能会导致考虑非典型的泛酸激酶相关神经变性（PKAN）和针对该诊断的研究。最近的报道表明，丙酮酸脱氢酶复合物的E2组分二氢脂酰胺乙酰基转移酶的缺乏可能类似地出现，在鉴别诊断中也应考虑该疾病。我们描述了由E2亚基缺陷引起的早期发作的阵发性肌张力障碍和丙酮酸脱氢酶缺乏症的两个姐妹。两者都具有与先前描述的患者相似的神经影像学特征，并且在DLAT基因中具有突变。由于用生酮饮食有可能治愈这种情况，因此在类似情况下应考虑这种诊断的可能性。

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