4H综合征的临床表现与分子诊断(附1例报告)

Clinical features and molecular diagnosis of 4H syndrome(report of 1 case)

目的探讨4H综合征的临床表现与分子诊断。方法回顾性分析1例基因诊断明确的4H综合征患者的临床资料,并结合文献资料分析其临床特点。结果患儿,男,6岁8个月,双手抖动1年,自幼精神、运动发育落后,行走不稳,出牙延迟。眼科检查示近视、视神经萎缩。头颅MRI示两侧大脑半球广泛对称性脑白质病变。基因检查示POLR3A复合杂合变异(c.1781T>G,c.2693del T)。诊断为4H综合征。结论 4H综合征早期临床表现为精神、运动发育迟缓、出牙延迟,主要临床特点为脑白质髓鞘化不良、近视、共济失调,基因学特点为POLR3A或POLR3B突变。

Objective To explore the clinical characteristics and molecular diagnosis of 4 H syndrome. Methods The clinical data of 1 patient with 4 H syndrome diagnosed by gene was retrospectively analyzed,and the clinical characteristics were analyzed combined with the literature. Results This child patient was male,6 years and 8 months old,with hands shake for 1 years,mental and movement development backwardness,walking instability,teething delay. Ophthalmic examination showed myopia and optic atrophy. Brain MRI suggested a wide range of cerebral white matter lesions on both sides of the cerebral hemisphere. Gene examination showed POLR3 A compound heterozygous mutation（ c. 1781 T G,c. 2693 del T）. He was diagnosed as 4 H syndrome. Conclusions The early manifestations of 4 H syndrome are mental and movement development backwardness and teething delay. The main clinical features of 4 H syndrome are leukodystrophy,myopia and ataxia. The genetic characteristics are POLR3 A or POLR3 B mutation.