Hiatt-Neu-Cooper神经发育综合征一例  

A Case Report of Hiatt-Neu-Cooper Neurodevelopmental Syndrome

作　　者：郭佳佳 武运红[2] 陶拉娣[2] GUO Jiajia;WU Yunhong;TAO Ladi(Department of Pediatric Medicine,Shanxi Medical University,Taiyuan 030001,China;Department of Neurology,Shanxi Children′s Hospital,Taiyuan 030013,China)

机构地区：[1]山西医科大学儿科医学系,太原030001 [2]山西省儿童医院神经内科,太原030013

出　　处：《罕见病研究》2024年第3期363-367,共5页Journal of Rare Diseases

摘　　要：Hiatt-Neu-Cooper神经发育综合征(HINCONS)是一种与7p14上RALA的杂合突变密切相关、以智力发育障碍或全面性发育落后为突出表现的罕见神经发育遗传病,目前尚无有效治疗手段。本文报道1例HINCONS患儿,主要表现为全面性发育落后,特别是语言和运动发育落后、全身肌张力减低、身材矮小、特殊面容及先天性室间隔缺损,实验室生化检查未见明显异常,头颅MRI提示透明隔间隙、穹窿间隙增宽,家系全外显子组测序提示患儿携带RALA基因c.475(exon4)A>G(p.K159E)变异,为新发变异。现结合文献报道的12例HINCONS患者临床特征进行回顾分析,以期为HINCONS的临床诊断与遗传咨询提供参考依据。Hiatt-Neu-Cooper neurodevelopmental syndrome(HINCONS),a rare neurodevelopmental disorder closely associated with a heterozygous mutation in the RALA gene on 7p14,is characterized by prominent intellectual disability or global developmental delay.Currently,no effective treatment options are available for this disease.This article reports a case of HINCONS presenting with global developmental delay,particularly in language and motor development,along with decreased muscle tone,short stature,distinctive facial features,and congenital ventricular septal defect.No significant abnormalities were found in laboratory biochemical tests.Head MRI revealed enlarged ventricles and increased space in the subarachnoid and convexity regions.Trio-based whole exome sequencing testing identified a novel variant RALA gene c.475(exon4)A>G(p.K159E)in the affected child.In this study,we performed a retrospective analysis of the clinical features of 12 reported cases of HINCONS from the literature,with the aim of providing a reference for the clinical diagnosis and genetic counseling of HINCONS.

关 键 词：Hiatt-Neu-Cooper神经发育综合征 RALA基因 全面性发育落后 家系全外显子组测序 

分 类 号：R72[医药卫生—儿科] R748[医药卫生—临床医学]