Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
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DOI：
10.1002/ana.20887
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发表时间：
2006-07-01
影响因子：
11.2
通讯作者：
Roig, Manuel
中科院分区：
文献类型：
--
作者：
del Toro, Mireia;Arranz, Jose Antonio;Roig, Manuel
报告两个无关的患者，一个新的表型非酮症高甘氨酸血症相关的特发性肺动脉高压。临床结果包括在出生后第一年发生的快速进行性神经功能恶化，其特征为发育退化，随访期间无癫痫发作或脑电图异常。两名患者均在18个月前死亡。甘氨酸裂解系统缺陷证实了酶的研究在冷冻肝脏。相关基因的分子生物学分析未发现致病性突变。影像学和病理学结果与进行性空泡性脑病一致。我们的患者的生化和酶参数与非典型非酮性高甘氨酸血症一致。临床和影像学进展，如进行性空泡性白质脑病和与肺动脉高压的相关性，构成了以前未被认识的变异。
To report two unrelated patients with a new phenotype of nonketotic hyperglycinemia associated with idiopathic pulmonary hypertension. Clinical findings included rapidly progressive neurological deterioration with onset in the first year of life characterized by developmental regression without seizures or electroencephalogram abnormalities during follow-up. Both patients died before the age of 18 months. Glycine cleavage system deficiency was confirmed by enzymatic studies in frozen liver. Molecular analysis in the related genes showed no pathogenic mutation. Radiological and pathological findings were consistent with progressive vacuolating encephalopathy. Our patients with biochemical and enzymatic parameters consistent with atypical nonketotic hyperglycinemia. The clinical and radiological evolution, as progressive vacuolating leukoencephalopathy and the association with pulmonary hypertension constitute a previously unrecognized variant.