A patient with an early diagnosis of PCDH19-related epilepsy

DOI
  • Hoshina Megumi
    Department of Pediatrics, Ohara General Hospital
  • Higurashi Norimichi
    Department of Pediatrics, Jikei University School of Medicine Department of Pediatrics, Fukuoka University School of Medicine
  • Abe Yusaku
    Department of Pediatrics, Ohara General Hospital Department of Pediatrics, Fukushima Medical University School of Medicine
  • Mishima Hiroshi
    Department of Pediatrics, Ohara General Hospital
  • Hosoya Mituaki
    Department of Pediatrics, Fukushima Medical University School of Medicine
  • Nakayama Tojo
    Department of Pediatrics, Tohoku University School of Medicine
  • Hirose Shinichi
    Department of Pediatrics, Fukuoka University School of Medicine

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Other Title
  • 幼児期早期に診断し得た<i>PCDH19</i>関連てんかんの女児例

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Abstract

  An abnormality in PCDH19 causes intractable early-onset epilepsy limited to females, and its significance in pediatric epilepsy is currently increasing. We report the case of a girl with an early diagnosis of PCDH19-related epilepsy. Focal seizures, consisting of eye deviation and asymmetrical tonic posturing, first appeared in clusters at the age of 5 months. Although each seizure was brief (less than a few minutes), seizures occurred in clusters. Cluster was observed at ages of 7, 10, 11, 14, and 19 months, respectively, and all were intractable to multiple treatments. Each cluster continued for 3 days to 2 weeks. However, no seizures occurred outsides the clusters. The pattern of seizure occurrences was characteristic of PCDH19-related epilepsy, which we first suspected when the patient was 11 months old. Genetic analysis of PCDH19 revealed two novel missense substitutions: c.1294G≥C (p.D417H) and c.1786G≥T (p.D596Y). Her psychomotor development was normal at the last follow-up at age of 1 year and 9 months. Currently, the pathogenesis and best treatments of PCDH19-related epilepsy remain unclear. However, to provide correct diagnosis and genetic counseling, and to avoid overtreatments, the possibility of this disease should be considered early in girls with intractable seizure clusters which starting during infancy to early childhood.

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 47 (4), 305-309, 2015

    The Japanese Society of Child Neurology

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