Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.
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DOI：
10.3233/trd-180020
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发表时间：
2018-04-13
期刊：
影响因子：
--
通讯作者：
Leon E
中科院分区：
文献类型：
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作者：
Beck DB;Cusmano-Ozog K;Andescavage N;Leon E
Syndrome综合征是一种罕见的常染色体隐性遗传性线粒体疾病，以乳酸酸中毒、肥厚型心肌病和双侧白内障为特征。我们在此报告一例新生儿死亡，在出生后第一天，最初表现为严重的乳酸性酸中毒，有绒毛膜炎和心源性休克的证据。最初的代谢实验室证实了严重的乳酸酸中毒，提示基因检测，结果显示AGK，c.979A> T; p.K327* 中存在一种Sjs综合征的纯合子致病变体。 除了典型的特征，我们的病人是第一个报告的情况下，肝功能不全扩大表型谱的严重程度和并发症。这个病例也强调了对先天性乳酸性酸中毒进行广泛鉴别诊断的重要性。
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of both chorioamnionitis and cardiogenic shock. Initial metabolic labs demonstrated a severe lactic acidosis prompting genetic testing which revealed a homozygous pathogenic variant for Sengers syndrome in AGK, c.979A > T; p.K327*. In addition to the canonical features of Sengers syndrome, our patient is the first reported case with liver dysfunction extending the phenotypic spectrum both in terms of severity and complications. This case also highlights the importance of maintaining a broad differential for congenital lactic acidosis.