Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Frontiers in Genetics Pub Date : 2025-02-28 eCollection Date: 2025-01-01 DOI:10.3389/fgene.2025.1528563

Yao Wang, Jing Guo, Peiqi Zhang, Fang Liu, Hua Li

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引用次数: 0

Abstract

Objectives: To describe a case of Progressive Encephalopathy with or without Lipodystrophy (PELD), characterized by a late onset of neurological regression at 9 years old, due to a homozygous c.974dupG variant in the BSCL2 gene.

Methods: An 11-year, 9-month-old girl with repeated seizures over 2 years underwent clinical assessment and genetic investigation. We also reviewed the published literature.

Results: The patient exhibited mild intellectual disability, a lipodystrophic appearance, precocious puberty, voracious appetite, elevated transaminase levels, hyperlipidemia, hypercortisolism, hepatomegaly, fatty liver, and splenomegaly. Motor and cognitive regression occurred at 9 years. A homozygous pathogenic variant c.974dup (p.Ile326HisfsTer12) in exon 7 of BSCL2 (NM_001122955.4) was identified. Despite multiple antiseizure medications, seizures were refractory, leading to status epilepticus and rapid death after genetic diagnosis.

Conclusion: We confirm that the BSCL2 c.974dupG variant is a cause of PELD. Regression may occur later than previously reported. Literature review suggests that the c.974dupG variant may present a milder phenotype compared to the classic c.985C>T variant. Early genetic testing and diagnosis are crucial for improving outcomes in rare neurodegenerative disorders like PELD.

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病例报告：由BSCL2变异引起伴或不伴脂肪营养不良的进行性脑病1例并文献复习。

目的：描述一例伴有或不伴有脂肪营养不良（PELD）的进行性脑病，其特征是9岁时晚发性神经功能减退，原因是BSCL2基因的c.974dupG纯合子变异。方法：对1例11岁9个月的反复发作2年的女童进行临床评估和基因调查。我们还回顾了已发表的文献。结果：患者表现为轻度智力残疾、脂肪营养不良、性早熟、食欲旺盛、转氨酶水平升高、高脂血症、高皮质醇血症、肝肿大、脂肪肝和脾肿大。9岁时出现运动和认知衰退。在BSCL2 （NM_001122955.4）的第7外显子中发现了一个纯合子致病变异c.974dup （p.e ile326hisfster12）。尽管有多种抗癫痫药物，但癫痫发作是难治性的，导致基因诊断后癫痫持续状态和快速死亡。结论：我们证实BSCL2 c.974dupG变异是导致PELD的一个原因。回归可能比以前报道的要晚。文献综述表明，与经典的c.985C>T变异相比，c.974dupG变异可能表现出更温和的表型。早期基因检测和诊断对于改善PELD等罕见神经退行性疾病的预后至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.