Abstract
Migrating partial seizures in infancy (MPSI) are an age-specific epilepsy syndrome
characterized by migrating focal seizures, which are intractable to various antiepileptic
drugs and cause severe developmental delay. We report a case of MPSI with heterozygous
missense mutation in KCNT1, which was successfully managed by ketogenic diet. At age 2 months, the patient developed epilepsy initially manifesting focal seizures with eye
deviation and apnea, then evolving to secondarily generalized clonic convulsion. Various
antiepileptic drugs including phenytoin, valproic acid, zonisamide, clobazam, levetiracetam,
vitamin B6, and carbamazepine were not effective, but high-dose phenobarbital allowed
discontinuation of midazolam infusion. Ictal scalp electroencephalogram showed migrating
focal seizures. MPSI was suspected and she was transferred to our hospital for further
treatment. Potassium bromide (KBr) was partially effective, but the effect was transient.
High-dose KBr caused severe adverse effects such as over-sedation and hypercapnia,
with no further effects on the seizures. At age 9 months, we started a ketogenic diet, which improved seizure frequency and severity
without obvious adverse effects, allowing her to be discharged from hospital. Ketogenic
diet should be tried in patients with MPSI unresponsive to antiepileptic drugs. In
MPSI, the difference in treatment response in patients with and those without KCNT1 mutation remains unknown. Accumulation of case reports would contribute to establish
effective treatment options for MPSI.
Keywords
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Article info
Publication history
Published online: January 11, 2016
Accepted:
December 23,
2015
Received in revised form:
November 25,
2015
Received:
July 27,
2015
Identification
Copyright
© 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
