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[癫痫、脑钙化与乳糜泻。早期诊断的重要性]

[Epilepsy, cerebral calcifications and coeliac disease. The importance of an early diagnosis].

作者信息

Díaz R M, González-Rabelino G, Delfino A

机构信息

Centro Hospitalario Pereira Rossell, Montevideo, Uruguay.

出版信息

Rev Neurol. 2005;40(7):417-20.

Abstract

INTRODUCTION

Coeliac disease (CD) has been linked to several neurological disorders, with a clearly higher incidence of epilepsy than in the general population. Since Gobbi's original description of the epilepsy with cerebral calcifications and coeliac disease syndrome in 1992, various reports have been published concerning different stages of development, although a number of questions remain to be answered with respect to its pathogenesis. The aim of this study is to describe the clinical symptoms and progression of three patients with the characteristic syndrome, who were diagnosed in the early stages of the disease.

CASE REPORTS

We describe the cases of three males, of school age, who visited because of partial seizures with visual symptoms that were secondarily generalised. A tomography scan of the head revealed bilateral occipital calcifications in all cases. The electroencephalogram showed temporooccipital paroxysmal discharges with a normal background rhythm. Tests for antiendomysium and antigliadin antibodies, with positive results, and a small intestine biopsy study were requested, which confirmed the suspicion of a grade 3 severe enteropathy. All the patients, following a gluten-free diet and taking anticonvulsants, were free of seizures in the follow-up (1, 2 and 8 years).

CONCLUSIONS

It is of vital importance to investigate CD in any patient with epilepsy and occipital cerebral calcifications, even in the absence of digestive symptoms, since early diagnosis and treatment with exclusion of gluten affect how the syndrome courses later on.

摘要

引言

乳糜泻(CD)与多种神经系统疾病有关,癫痫的发病率明显高于普通人群。自1992年戈比首次描述伴有脑钙化和乳糜泻综合征的癫痫以来,已发表了关于不同发展阶段的各种报告,尽管在其发病机制方面仍有许多问题有待解答。本研究的目的是描述三名患有该特征性综合征的患者在疾病早期被诊断出的临床症状和病程。

病例报告

我们描述了三名学龄男性患者的病例,他们因伴有视觉症状的部分性发作继发全身性发作前来就诊。所有病例的头部断层扫描均显示双侧枕部钙化。脑电图显示颞枕部阵发性放电,背景节律正常。进行了抗肌内膜和抗麦胶蛋白抗体检测,结果呈阳性,并进行了小肠活检研究,证实怀疑为3级严重肠病。所有患者在遵循无麸质饮食并服用抗惊厥药后,随访期间(1年、2年和8年)均无癫痫发作。

结论

对于任何患有癫痫和枕部脑钙化的患者,即使没有消化症状,调查乳糜泻也至关重要,因为早期诊断并排除麸质进行治疗会影响该综合征随后的病程。

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