L-2-羟基戊二酸尿症：埃及两兄妹的临床、放射学和遗传学特征报告。

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-25 DOI:10.1080/13554794.2024.2346978

Abdel-Ghaffar Ismail Fayed, Mohie-Eldin Tharwat Mohamed, Elsayed Abed, Mostafa Meshref, Ahmed Ali Mahmoud

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引用次数: 0

摘要

L-2-羟基戊二酸尿症（L-2-HGA）是一种罕见的常染色体隐性遗传病，其特点是体液和大脑中羟基戊二酸水平升高，且白质异常。我们介绍了两个患有精神运动迟滞和四肢瘫痪的兄弟姐妹。他们的脑成像显示大脑皮层、白质、基底节和小脑弥漫性双侧对称受累。全外显子组序列研究发现，在染色体14q22.1（NM_024884.2：c.178G > A; pGly60Arg）上编码L-2-羟基戊二酸脱氢酶（L2HGDH）（OMIM #236792）的基因中存在一个同源的可能致病变异。因此，利用 L2HGDH 基因研究有利于 L2HGA 的诊断。

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L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.