摘要
本文报道一例TALDO1基因复合杂合变异导致的转醛醇酶缺乏症患儿。孕母有不良孕产史,产前检查发现胎儿超声异常,产前全外显子组测序检出TALDO1基因存在c.462-2A>G和c.574C>T(p.R192C)可能致病性杂合变异。患儿出生胎龄38周+1,生后存在特殊体征(皮肤松弛/皱褶多、低耳位等)、脾大、贫血、肝功能和凝血功能异常,结合产前诊断结果诊断转醛醇酶缺乏症。患儿现1岁3月龄仍可见双手背及颈背部皮肤较松弛且皱褶多。本病例提示,对于出生有肝脾大、贫血、血小板减少、凝血功能异常,同时伴特殊体征如皮肤松弛/皱褶多、低耳位等,需警惕转醛醇酶缺乏症的可能。
We report a neonate with transaldolase deficiency caused by compound heterozygous variation of the TALDO1 gene.A pregnant woman,who had an adverse pregnancy history,was found with multiple fetal abnormalities on prenatal ultrasound and the following whole exon sequencing indicated a likely pathogenic heterozygous variation of c.462-2A>G and c.574C>T(p.R192C)in TALDO1 gene in the fetus.A body was born at 38+1 weeks and presented dysmorphic features(cutis laxa/wrinkled skin and low-set ears,etc.),splenomegaly,anemia,abnormal liver function and coagulation.In combination with the prenatal testing results,transaldolase deficiency was diagnosed.The patients still had cutis laxa/wrinkled skin on the back of both hands and neck at one year and three months old.Therefore,for babies with hepatosplenomegaly,anemia,thrombocytopenia,coagulation dysfunction,at the same time with dysmorphic features such as cutis laxa,low-set ears,attention should be paid to the investigation of transaldolase deficiency.
作者
李苑菁
张华岩
韩瑾
李秀珍
赵小朋
Yuanjing Li;Huayan Zhang;Jin Han;Xiuzhen Li;Xiaopeng Zhao(Department of Neonatology,Guangzhou Women and Children's Medical Center,Guangzhou 510623,China;Department of Neonatology,Children's Hospital of Philadelphia,and University of Pennsylvania Perelman School of Medicine,Philadelphia 19104,USA;Prenatal Diagnosis Center,Guangzhou Women and Children's Medical Center,Guangzhou 510623,China;Department of Endocrinology,Guangzhou Women and Children's Medical Center,Guangzhou 510623,China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2022年第4期294-297,共4页
Chinese Journal of Perinatal Medicine
