Jequier Gygax Marine, Roulet-Perez Eliane, Meagher-Villemure Kathleen, Jakobs Cornelis, Salomons Gajja S, Boulat Olivier, Superti-Furga Andrea, Ballhausen Diana, Bonafé Luisa
Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13.
Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness. Autopsy showed spongiform lesions in the subcortical white matter, in the basal ganglia, and in the dentate nuclei. Investigations in an older sister with developmental delay, ataxia, and tremor revealed L-2-hydroxyglutaric aciduria and subcortical white matter changes with hyperintensity of the basal ganglia and dentate nuclei at brain magnetic resonance imaging. Both children were homozygous for a splice site mutation in the L2HGDH gene. Sudden death has not been reported in association with L-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be important.
遗传性代谢紊乱是导致婴儿期少量但显著的意外猝死的原因。我们报告了一名11个月大的女孩，她在患并发疾病期间突然死亡。尸检显示皮质下白质、基底神经节和齿状核有海绵状病变。对一名有发育迟缓、共济失调和震颤的姐姐进行的检查发现，其患有L-2-羟基戊二酸尿症，脑磁共振成像显示基底神经节和齿状核有高强度信号的皮质下白质改变。两个孩子在L2HGDH基因的剪接位点突变上都是纯合子。迄今为止，尚未有与L-2-羟基戊二酸尿症相关的猝死报告，但由于这种先天性代谢缺陷可能是可治疗的，早期诊断可能很重要。
