SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment

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• 作者：Melanie A. McNally ; MD^a ; Julia Johnson ; MD^b ; Thierry A. Huisman ; MD^c ; Andrea Poretti ; MD^c ; Kristin W. Baranano ; MD ; PhD^a ; Ahmet A. Baschat ; MD^d ; Carl E. Stafstrom ; MD ; PhD^a ; ^{cstafst1@jhmi.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：fetal seizures ; SCN8A ; early infantile epileptic encephalopathy ; arthrogryposis ; sodium channels ; ultrasonography
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：64
• 期：Complete
• 页码：87-91
• 全文大小：498 K

文摘

SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). There are currently no clear genotype-phenotype correlations to help guide patient counseling and management.

Patient Description

We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures. Ultrasound also revealed abnormal developmental states. With maternal administration of levetiracetam, the rhythmic fetal movements stopped. After birth, the patient developed treatment-refractory multi-focal epilepsy confirmed by electroencephalogram. Neuroimaging revealed restricted diffusion in the superior cerebellar peduncles, a finding not reported previously in EIEE13.

Conclusion

This is the first report of EIEE13 associated with clinical prenatal-onset seizures. Ultrasonography can be useful for identifying fetal seizures, which may be treatable in utero. Ideally, the clinical approach to fetal seizures should involve a multidisciplinary team spanning the pre- and postnatal course to expedite early diagnosis and optimize management, as illustrated by this patient.