新生儿期起病的常染色体显性智力障碍35型1例

A case of mental retardation autosomal dominant 35 with neonatal onset

本文报道1例新生儿期起病的常染色体显性智力障碍35型(mental retardation autosomal dominant 35,MRD35)患儿的诊治过程。患儿男,生后1.5 h发病,表现为反复抽搐、肌张力低下、头围大、先天性肌性斜颈、喂养困难。动态脑电图示左中央区-颞区阵发性痫样波放电。全外显子组测序示患儿PPP2R5D基因杂合变异c.139G>A(p.Glu47Lys),为新发变异,父母为野生型。随访至患儿1岁龄时,发育迟缓明显。MRD35临床缺乏特异性,需全外显子组测序明确诊断;且无特异性治疗,多为对症治疗,包括康复训练、语言训练、控制癫痫发作等。

This article reported a male patient with neonatal onset mental retardation autosomal dominant 35(MRD35).The boy presented with repeated convulsions,hypotonia,enlarged head circumference,congenital muscular torticollis and feeding difficulties in the neonatal period.Dynamic electroencephalogram showed paroxysmal epileptic discharges in the left central-temporal region.High-throughput whole-exome sequencing revealed a heterozygous mutation of c.139G>A(p.Glu47Lys)in the PPP2R5D gene,which was a de novo mutation not inherited from his parents.The child had significant developmental delay at the age of one year.MRD35 lacks typical clinical manifestations and requires whole-exome sequencing for definitive diagnosis.Currently,there is no specific treatment for MRD35 and symptomatic treatments,including rehabilitation training,language training and seizure control,are mostly adopted.