Beck David B, Cusmano-Ozog Kristina, Andescavage Nickie, Leon Eyby
National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.
Children's National Health System, Rare Disease Institute, Genetics and Metabolism, Washington, DC, USA.
Transl Sci Rare Dis. 2018 Apr 13;3(1):45-48. doi: 10.3233/TRD-180020.
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 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.
森格斯综合征是一种罕见的常染色体隐性线粒体疾病，其特征为乳酸性酸中毒、肥厚型心肌病和双侧白内障。我们在此报告一例新生儿在出生第一天内死亡的病例，该患儿最初表现为严重乳酸性酸中毒，伴有绒毛膜羊膜炎和心源性休克的证据。初始代谢实验室检查显示严重乳酸性酸中毒，促使进行基因检测，结果显示在c.979A>T；p.K327存在森格斯综合征的纯合致病性变异。除了森格斯综合征的典型特征外，我们的患者是首例报道的伴有肝功能障碍的病例，这在严重程度和并发症方面都扩展了表型谱。该病例还强调了对先天性乳酸性酸中毒保持广泛鉴别诊断的重要性。
