HID1基因突变致婴儿脑病和垂体功能减退症1例

A case of infantile encephalopathy and hypopituitarism caused by HID1 gene mutation

本文报道1例HID1基因突变致婴儿脑病和垂体功能减退症,该患儿婴儿期起病,临床表现为反复发热、垂体功能减退和肌张力降低,并逐渐发展为全面严重的发育迟缓和难治性癫痫;头颅磁共振成像示胼胝体明显变薄,全基因组测序检测示HID1基因复合杂合突变:c2002C>Tp、c.1213-c.1215delTTCp。HID1基因突变致婴儿脑病和垂体功能减退症目前尚无有效治疗措施。该患儿给予抗感染、口服左甲状腺素钠片和左乙拉西坦等对症支持治疗,患儿出院后随访27个月,2岁6月龄时因呼吸系统并发症及顽固性癫痫发作去世。基因检测是诊断该病的关键方法。本文进一步丰富婴儿脑病和垂体功能减退症的临床表型及遗传突变谱,为疾病的诊断和遗传咨询提供重要的参考依据。

This article reports a case of infantile encephalopathy and hypopituitarism caused by HID1 gene mutation.The child developed symptoms during infancy,including recurrent fever,pituitary dysfunction,and decreased muscle tone,gradually developing into severe developmental delay and refractory epilepsy.Head magnetic resonance imaging showes significant thinning of corpus callosum,and whole genome sequencing reveales compound heterozygous mutation in HID1 gene:c2002C>Tp,c.1213-c.1215delTTCp.There is currently no effective treatment for infantile encephalopathy and hypopituitarism caused by HID1 gene mutation.The child was given symptomatic supportive treatment such as anti-infection,oral Levothyroxine Sodium Tablets and Levetiracetam.The child patient was followed up for 27 months after discharge,and passed away at the age of two years and six months due to respiratory complications and refractory epileptic seizures.Genetic testing is a key method for diagnosing this disease.This article further enriches clinical phenotype and genetic mutation spectrum of infantile encephalopathy and hypopituitarism,providing important reference basis for disease diagnosis and genetic counseling.