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首次发作揭示迟发性法尔病:一例报告及文献简要综述

First-time seizure revealing late-onset Fahr's disease: a case report and brief literature review.

作者信息

Lamessa Adugna, Tesfaye Kenna, Woyimo Tamirat Godebo, Gebremichael Ermias Habte

机构信息

Department of Internal Medicine, Jimma University, Jimma, Ethiopia.

出版信息

Front Hum Neurosci. 2024 Nov 22;18:1456610. doi: 10.3389/fnhum.2024.1456610. eCollection 2024.

DOI:10.3389/fnhum.2024.1456610
PMID:39651493
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11621208/
Abstract

Fahr's disease (FD), otherwise known as primary familial brain calcification, is a rare neurodegenerative condition that involves intracerebral calcification at the level of the basal ganglia and other brain regions. It is an inherited neurologic disorder, although its molecular genetics have not been thoroughly defined. Patients usually present with a wide range of symptoms, predominantly movement disorders and cognitive changes. However, seizures are a rare initial presenting features of late-onset FD in adults. Herein, we present the case of a 60-year-old man with no known chronic illnesses who was admitted to a tertiary hospital after experiencing first-time generalized tonic-clonic seizures and loss of consciousness for two days. Basic laboratory results were within normal limits, and a non-contrast brain computed tomography (CT) scan showed intracerebral calcification. The patient was diagnosed with epilepsy secondary to FD based on its modified diagnostic criteria and responded well to antiepileptic treatment. The case highlights a rare association and emphasizes the importance of considering this diagnosis in patients experiencing an inaugural seizure; appropriate tests should be performed to confirm or rule out other relevant and secondary causes, and the treatment should be modified accordingly.

摘要

法尔病(FD),又称原发性家族性脑钙化,是一种罕见的神经退行性疾病,累及基底神经节及其他脑区的脑内钙化。它是一种遗传性神经系统疾病,尽管其分子遗传学尚未完全明确。患者通常表现出广泛的症状,主要是运动障碍和认知改变。然而,癫痫发作是成人迟发性FD罕见的首发特征。在此,我们报告一例60岁男性患者,无已知慢性疾病,在首次出现全身强直阵挛性发作和意识丧失两天后入住三级医院。基本实验室检查结果在正常范围内,脑部非增强计算机断层扫描(CT)显示脑内钙化。根据其改良诊断标准,该患者被诊断为继发于FD的癫痫,对抗癫痫治疗反应良好。该病例突出了一种罕见的关联,并强调了在首次发作的患者中考虑这一诊断的重要性;应进行适当检查以确认或排除其他相关的继发原因,并相应调整治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e81/11621208/f3ae92271a42/fnhum-18-1456610-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e81/11621208/f3ae92271a42/fnhum-18-1456610-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e81/11621208/f3ae92271a42/fnhum-18-1456610-g001.jpg

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J Clin Med. 2024 Apr 18;13(8):2365. doi: 10.3390/jcm13082365.
2
Association between hyponatremia and adverse clinical outcomes of heart failure: current evidence based on a systematic review and meta-analysis.低钠血症与心力衰竭不良临床结局之间的关联:基于系统评价和荟萃分析的当前证据
Front Cardiovasc Med. 2023 Dec 22;10:1339203. doi: 10.3389/fcvm.2023.1339203. eCollection 2023.
3
Hypoparathyroidism and Fahr's Syndrome: A Case Series.
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Cureus. 2023 Jun 16;15(6):e40502. doi: 10.7759/cureus.40502. eCollection 2023 Jun.
4
The Genetics of Primary Familial Brain Calcification: A Literature Review.原发性家族性脑钙化的遗传学:文献综述。
Int J Mol Sci. 2023 Jun 29;24(13):10886. doi: 10.3390/ijms241310886.
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Advanced Early-Onset Fahr's Disease: A Case Report.晚期早发性法尔病:一例报告
Cureus. 2023 May 25;15(5):e39495. doi: 10.7759/cureus.39495. eCollection 2023 May.
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