A patient with an early diagnosis of PCDH19-related epilepsy
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- Hoshina Megumi
- Department of Pediatrics, Ohara General Hospital
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- Higurashi Norimichi
- Department of Pediatrics, Jikei University School of Medicine Department of Pediatrics, Fukuoka University School of Medicine
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- Abe Yusaku
- Department of Pediatrics, Ohara General Hospital Department of Pediatrics, Fukushima Medical University School of Medicine
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- Mishima Hiroshi
- Department of Pediatrics, Ohara General Hospital
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- Hosoya Mituaki
- Department of Pediatrics, Fukushima Medical University School of Medicine
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- Nakayama Tojo
- Department of Pediatrics, Tohoku University School of Medicine
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- Hirose Shinichi
- Department of Pediatrics, Fukuoka University School of Medicine
Bibliographic Information
- Other Title
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- 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
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- NO TO HATTATSU
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NO TO HATTATSU 47 (4), 305-309, 2015
The Japanese Society of Child Neurology
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Keywords
Details 詳細情報について
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- CRID
- 1390001205519043584
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- NII Article ID
- 130005111608
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- ISSN
- 18847668
- 00290831
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- Text Lang
- ja
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- Data Source
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- JaLC
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed