• 作者：R. Pé ; rez Delgado^a ; ^b ; M. Lafuente Hidalgo^a ; ^b ; J. Ló ; pez Pisó ; n^a ; ^b ; ^{jlopezpi@salud.aragon.es} ; B. Sebastiá ; n Torres^b ; S. Torres Claveras^c ; M.C. Garcí ; a Jimé ; nez^a ; ^d ; A. Baldellou Vá ; zquez^a ; ^d ; J.L. Peñ ; a Segura^a ; ^b
• 关键词：Dé ; ficit de biotinidasa ; Epilepsia ; Epilepsias criptogé ; nicas ; Epilepsias sintomá ; ticas ; Error congé ; nito del metabolismo ; Lactante ; Retraso psicomotor ; Sí ; ndrome de Dravet
• 刊名：Neurolog铆a
• 出版年：2010
• 期刊代码：pca262_02134853
• 类别：med
• 出版时间：March 2010
• 卷：25
• 期：2
• 页码：90-95
• 文件大小：184 K

Introduction

The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress.

Material and methods

We review our experience in epilepsy with children born after 1 January 1997 and who had their first seizure between 1 and 3 months of age before January 2008.

Results

Eighteen cases diagnosed with epilepsy and a first seizure between 1 and 3 months of age were included. One case was within the Dravet syndrome spectrum with the c829 T>G c277G heterozygous mutation of the SCN1A gene. Four were cryptogenic epilepsies and thirteen were asymptomatic: 2 were inborn errors of metabolism (biotinidase deficiency with a response to biotin and Leigh's syndrome); 2 were of infectious origin and the remaining nine prenatal encephalopathy. Nine (50%) currently have a severe psychomotor delay and 2 died. The cryptogenic cases had a relatively poor progress.

Conclusions

Our experience corroborates the poor prognosis associated with early onset, between 1 and 3 months, of epileptic seizures. Given the wide aetiological range and the poor prognosis in the absence of specific treatment, an appropriate diagnostic-therapeutic strategy is required to avoid diagnostic uncertainties and can identify potentially treatable cases, such as some inborn errors of metabolism. In this age group, the protocol for convulsions of unknown cause must be the same as that for neonatal convulsions, including treatment with a vitamin cocktail, after collecting biological samples.