婴儿先天性糖基化异常Ia型1例报告

发布时间：2018-06-18 12:09

本文选题：先天性糖基化异常Ia型 + 遗传代谢病　；参考：《临床儿科杂志》2017年03期

【摘要】：目的探讨罕见遗传代谢病,先天性糖基化异常Ia型(CDG-Ia)的临床特点及诊疗。方法回顾分析1例因脑病及肝病被发现的CDG-Ia型婴儿的临床资料及基因检测结果,并复习相关文献。结果男性患儿,生后3个月出现颜面、躯干部皮疹,运动发育落后,营养不良,面颊部脂肪较丰满,四肢肌张力低下,双侧乳头凹陷。检查发现肝功能异常,轻度肾功能损害;发育商低下。头颅磁共振检查提示双侧额、颞部脑沟增宽,小脑萎缩。尿有机酸、血氨基酸及酯酰肉碱谱、生物素酶活性正常。基因测序显示患儿PMM2基因存在两处杂合突变点c.430TC(p.F144L)及c.713GC(p.R238P),确诊为CDG-Ia。患儿父母健康,各携带一个致病突变。患儿曾有一兄,智力运动障碍,8个月时死于肝肾功能损害、肾积水。结论CDG-Ia为常染色体隐性遗传病,对于不明原因的多脏器损害,特别是合并智能运动发育落后、斜视、乳头凹陷、小脑萎缩的患儿应该考虑本病的可能,PMM2基因检测有助诊断。
[Abstract]:Objective to investigate the clinical features and diagnosis and treatment of rare genetic metabolic disease (CDG-Ia) with congenital glycosylation abnormality (Ia). Methods A case of CDG-Ia infantile with encephalopathy and liver disease was analyzed retrospectively. Results male children had facial appearance 3 months after birth, rash of trunk, poor motor development, poor nutrition, fat in cheek, low muscular tension in limbs, and bilateral nipple depression. Abnormal liver function, mild renal dysfunction and low development quotient were found. Cranial MRI showed bilateral frontal and temporal sulcus widening and cerebellar atrophy. Urine organic acid, blood amino acid and ester carnitine spectrum, biotin enzyme activity is normal. Gene sequencing showed that there were two heterozygous mutations in PMM2 gene, c. 430TCU p. F144L) and c. 713GCU p. R238P, which were diagnosed as CDG-Ia. The child's parents are healthy, each carrying a pathogenic mutation. The child once had a brother, intellectual dyskinesia, died 8 months after liver and kidney function damage, hydronephrosis. Conclusion CDG-Ia is an autosomal recessive hereditary disease. It is suggested that the detection of PMM2 gene may be helpful in the diagnosis of multiple organ damage of unknown origin, especially in children with complicated intellectual motor retardation, strabismus, nipple depression and cerebellar atrophy.
【作者单位】：郑州市儿童医院急诊科;河南中医药大学第一附属医院儿科;北京大学第一医院儿科;北京福佑龙惠遗传病专科门诊部;
【分类号】：R725.8

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