Service des Urgences Pédiatriques, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
Inserm U1141 Paris Diderot Sorbonne Université-Paris Cité, DHU PROTECT, Hôpital Robert Debré, Paris, France.
Metab Brain Dis. 2017 Dec;32(6):2149-2154. doi: 10.1007/s11011-017-0101-6. Epub 2017 Sep 3.
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c.1035dup mutation in the two siblings, supporting a diagnosis of Sengers syndrome. Our patients presented an intermediate form with intellectual deficiency, an unusual feature in Sengers syndrome. This permitted a prenatal diagnosis for a following pregnancy.
桑格斯综合征是一种罕见的常染色体隐性代谢疾病，由 AGK 基因突变导致酰基甘油激酶缺乏引起。其特征为先天性白内障、肥厚型心肌病、肌病和乳酸性酸中毒。目前已描述了两种临床形式：严重的新生儿型和表现为运动不耐受的更良性形式。我们描述了两例具有先天性白内障、心肌病、张力减退、智力残疾和乳酸性酸中毒的同胞。全外显子组测序显示两例同胞均存在 c.1035dup 突变的纯合子，支持桑格斯综合征的诊断。我们的患者表现出一种中间型智力缺陷，这在桑格斯综合征中是不常见的特征。这为后续妊娠提供了产前诊断的可能。
