一个患有吉尔伯特综合症的孩子的朱伯特综合症

Q3 Medicine
E. Sergeeva, S.M. Chekh, M. G. Ipatova, P. Shumilov
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引用次数: 0

摘要

Joubert综合征是一种来自一组纤毛病的异质性疾病,它们具有中脑和后脑的特定畸形,根据大脑MRI称为“臼齿征”。本文报道一例罕见的遗传性疾病——由OFD1基因C.610A >g突变引起的Joubert综合征。病史可追溯至6岁9个月。患者自出生以来的临床表现为黄疸、呼吸障碍、弥漫性低张力、会聚性斜视、身体和精神运动发育迟缓。在排除了主要的遗传性代谢性疾病后,患者接受了脑部MRI检查,发现了小脑和脑干结构的特殊异常,称为“臼齿征”。随后,通过分子遗传学方法(Sanger测序)明确了诊断。关键词:儿童,Joubert综合征,纤毛病,OFD1基因
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Joubert syndrome in a child with Gilbert syndrome
Joubert syndrome is a heterogeneous disease from a group of ciliopathies that share a specific malformation of the midbrain and hindbrain, known as the «molar tooth sign» according to MRI of the brain. This article presents a clinical case of a rare hereditary disease – Joubert syndrome caused by mutations of C.610A>G in the OFD1 gene. The history of the disease was traced to the age of 6 years 9 months. Clinical manifestations of the disease in the patient since birth were jaundice, respiratory disorders, diffuse hypotonia, convergent strabismus, delayed physical and psychomotor development. After excluding the main groups of hereditary metabolic diseases, the patient underwent a brain MRI, where a specific anomaly of the cerebellar and brainstem structure, known as the «molar tooth sign», was revealed. Subsequently, the diagnosis was clarified by the molecular genetic method (Sanger sequencing). Key words: children, Joubert syndrome, ciliopathy, OFD1 gene
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来源期刊
Voprosy Detskoi Dietologii
Voprosy Detskoi Dietologii Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.20
自引率
0.00%
发文量
17
期刊介绍: The scientific journal Voprosy Detskoi Dietologii is included in the Scopus database. Publisher country is RU. The main subject areas of published articles are Food Science, Pediatrics, Perinatology, and Child Health, Nutrition and Dietetics, Клиническая медицина.
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