一名患有 CLCN4 相关神经发育障碍的男孩的生酮饮食经验。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2024-03-12 eCollection Date: 2023-12-01 DOI:10.2478/bjmg-2023-0013
G Sager, U Yukselmis, O Güzel, A Turkyilmaz, M Akcay
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引用次数: 0

摘要

雷诺-克莱斯综合征(Raynaud-Claes Syndrome)是一种以智力障碍为特征的罕见疾病,由 CLCN4 基因的 X 连锁致病变体引起。在一名患有智力障碍、畸形和癫痫性脑病的 6 岁男性随访患者中,发现了半等位错义变体 NM_001830.4:c.1597G>A (p.V533M)。患者的母亲和一个姐姐也携带相同的变异体。患者的临床表现明显更严重,表现为非惊厥状态。使用苯二氮卓治疗后,患者出现强直状态,并成功接受了生酮饮食治疗。雷诺-克莱斯综合征可出现多种类型的癫痫发作,其中一些可能危及生命。如果患者在接受苯二氮卓治疗后出现强直性发作增加,则可对其 CLCN4 变异进行研究。然而,生酮饮食疗法作为一线治疗方法可以挽救由 CLCN4 基因引起的耐药性癫痫患者的生命。
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Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder.

Raynaud-Claes syndrome is rare condition characterized with intellectual disability and is caused by X-linked pathogenic variants in CLCN4 gene. Hemizygous missense variant NM_001830.4: c.1597G>A (p.V533M) was detected in a 6-year-old male followed up with intellectual disability, dysmorphism, and epileptic encephalopathy. The mother and one sister of the patient were also carrying the same variant. The clinical picture of the patient was significantly more severe, and the patient exhibited nonconvulsive status. Tonic status was observed with benzodiazepine treatment and the patient was successfully treated with a ketogenic diet. Many types of seizures can be seen in Raynaud-Claes syndrome, some of which can be life-threatening. CLCN4 variants can be investigated in patients who exhibit an increase in tonic seizures with benzodiazepine treatment. However, ketogenic dietary therapy as first-line treatment can be lifesaving in resistant epilepsy cases caused by the CLCN4 gene.

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来源期刊
CiteScore
1.00
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>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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