P51 - 2927: Intermittent encephalopathy and evolving movement disorder in a child with SCN8A mutation

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• 作者：M.T. Ong ; A. Desurkar
• 刊名：European Journal of Paediatric Neurology
• 出版年：2015
• 出版时间：May 2015
• 年：2015
• 卷：19
• 期：supp_S1
• 页码：S108
• 全文大小：80 K

文摘

Epileptic encephalopathy associated with SCN8A mutations have been increasingly recognised. Seizures in almost all cases are progressive with only a handful with an extended seizure-free period. They can be associated with various movement disorders. We report the first case of SCN8A with intermittent epileptic encephalopathy and describe his evolving movement disorder.

Methods

A 4.5 year old boy developed jitteriness on day 2 for which no cause was found. At 2 months old he developed epilepsy and at 5 months he had epileptic encephalopathy. Despite being seizure-free with a normal EEG after, he did not regain his skills fully and had feeding difficulties requiring gastrostomy. He had 3 further episodes of epileptic encephalopathy, of which he would progress developmentally in between although not to expected level for age. Seizures appeared to respond to Phenytoin initially but latterly response to various interventions were temporary if not ineffective. He developed intermittent ataxia and choreoathetoid movements and acquired microcephaly. Previously normal brain MRI now shows significant cerebellar atrophy.

Results

Following extensive investigations he was found to be heterozygous for the c.3967G>T; p(Ala1323Ser) mutation in the SCN8A gene on next-generation sequencing and confirmed with Sanger sequencing.

Conclusion

Our knowledge of SCN8A mutation phenotype is currently expanding with more cases being identified through next-generation sequencing. A patient may have more than one type of movement disorder and the progression of seizures may be waxing and waning. It is hoped that further understanding of the gene function and genotype-phenotype correlation we would be able to offer a clearer prognosis and treatment for these patients and families.