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Online ISSN : 1884-7668
Print ISSN : 0029-0831
ISSN-L : 0029-0831
Case Reports
A case of early infantile epileptic encephalopathy type 7 with partial response to pyridoxal phosphate
Miwa HagitaYohane MiyataEiji NakagawaRyojun TakedaHiroshi YoshihashiMasataka HondaToshiki TakeuchiKenjirou KosakiAkira OkaKunimasa Yan
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Keywords: KCNQ2
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2021 Volume 53 Issue 2 Pages 137-141

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Abstract

  We present a case of early infantile epileptic encephalopathy type 7 (EIEE7) that partially responded to pyridoxal phosphate (PLP). On the first day, the patient presented with multiple generalized tonic-clonic seizures with eye deviation. Abnormal electroencephalogram (EEG) findings were recorded during the episodes. The patient improved with phenobarbital (PB), but frequent tonic-clonic seizures recurred on day 50. PLP was then introduced, and the seizures ceased within 3 days with EEG results returning to within normal limits. We clinically diagnosed pyridoxine-dependent epilepsy (PDE) in the patient. However, the seizures recurred at 10 months of age. Upon investigation at age 4, plasma and cerebrospinal fluid alpha-aminoadipic semialdehyde (α-AASA) and pipecolic acid levels were not elevated. Furthermore, ALDH7A1 sequencing was normal. PDE was therefore an unlikely diagnosis, and PLP was subsequently stopped. Whole exome sequencing identified a novel heterozygous KCNQ2 frameshift mutation (NM_172107.2 : c.2032dup ; p. (Glu678Glyfs187)) when she was 5 years of age, and we then diagnosed EIEE7. Recent reports show that PLP is effective for the treatment of EIEE7, emphasizing that EIEE7 and PDE should be carefully differentiated. It is important to control seizures early for improving the neurodevelopmental prognosis of EIEE7, and it is worth considering early administration of PLP as a second-line drug or treatment concomitant with a voltage-dependent sodium channel inhibitor.

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© 2021 The Japanese Society of Child Neurology
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