A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-02-01 Epub Date: 2024-10-03 DOI:10.1159/000541285

Hüseyin Bahadır Şenol, Pelin Teke Kısa, Bahar Kulu, Hale Ören, Nur Arslan, Uluç Yiş

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引用次数: 0

Abstract

Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene.

Case presentation: This report presents a case study of a 14-year-old female patient exhibiting symptoms of NLSDM, including recurrent abdominal pain, fatigue, leg pain, and hepatosteatosis. Diagnostic investigations revealed elevated creatinine kinase levels, myopathic findings on electromyography, magnetic resonance imaging findings showing gluteal involvement and Jordans' bodies on peripheral smear. Clinical exome panel showed homozygous of PNPLA2 c.496G>C p.Asp166His (NM_020376.4) variant. The clinical manifestations, diagnostic challenges, and implications of this novel variant are discussed in the context of current literature. Hypogonadotropic hypogonadism was confirmed in this patient after eliminating possible underlying causes. This was a novel manifestation, and hormone replacement therapy was planned.

Conclusion: This case underscores the significance of genetic testing in elucidating the molecular basis of NLSDM and emphasizes the necessity of comprehensive clinical evaluation for accurate diagnosis and management.

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中性脂质储存病合并肌病和促性腺功能减退症女性患者中一种新的PNPLA2变异

背景：中性脂质储存病伴肌病（NLSDM）是一种罕见的常染色体隐性遗传病，其特征是由于patin样磷脂酶结构域2 （PNPLA2）基因突变导致甘油三酯代谢异常。病例介绍：本报告报告了一个14岁的女性患者，表现出NLSDM的症状，包括复发性腹痛、疲劳、腿部疼痛和肝骨增生症。诊断调查显示肌酐激酶水平升高，肌电图显示肌病，磁共振成像显示臀肌受累，外周涂片显示乔丹氏体。临床外显子组显示PNPLA2 C . 496g >C . asp166his （NM_020376.4）变异纯合子。临床表现，诊断的挑战，并在当前的文献背景下讨论这种新的变异的影响。在排除可能的潜在原因后，该患者被确认为促性腺功能减退。这是一种新的表现，并计划激素替代治疗。结论：本病例强调了基因检测对阐明NLSDM分子基础的重要性，强调了临床综合评价对准确诊断和治疗的必要性。

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

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.