J Korean Child Neurol Soc Search


Ann Child Neurol > Volume 26(1); 2018 > Article
Journal of the Korean Child Neurology Society 2018;26(1):32-37.
DOI: https://doi.org/10.26815/jkcns.2018.26.1.32    Published online March 30, 2018.
A Case of Effective Treatment of a Patient with PCDH 19-Related Epilepsy using Corticosteroid.
Dong Min Lee, Hee Jung Chung
1Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea.
2Department of Pediatrics, National Health Insurance Service, Ilsan Hospital, Goyang, Korea. agathac@nhimc.or.kr
An uncommon female-limited intractable epilepsy, protocadherin (PCDH) 19-related epilepsy, is characterized by mutations in the PCDH 19 gene, located on chromosome X. Clinical symptoms include early onset, fever sensitivity, focal seizures and psychomotor retardation. PCDH 19-related epilepsy is unresponsive to conventional antiepileptic drugs (AEDs), but corticosteroid is reported to be effective in a few cases. We report a case of a 25-month-old girl who was admitted to our hospital due to developmental regression, accompanied by aggravated seizures with fever. Although several conventional AEDs were administered, the frequency and severity of seizures increased with mild fever, and the symptoms did not improve. Considering possible immune, and inflammatory involvement in seizure generation, the patient was administered corticosteroid treatment during the acute phase. Corticosteroid dramatically improved seizures and her development gradually. The patient was finally diagnosed with PCDH 19-related epilepsy in genomic evaluation. We observed the effect of corticosteroid on intractable epilepsy in patient with PCDH 19 mutation. If a female patient whose seizures are resistant to conventional AEDs or easily provoked by mild fever, has developmental delay or developmental regression, this may be an important clinical clue to the early diagnosis of PCDH 19-related epilepsy.
Key Words: PCDH 19, Intractable epilepsy, X-linked mental retardation disorder, Female, Corticosteroids


Browse all articles >

Editorial Office
101, Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel: +82-2-2072-2364    Fax: +82-2-743-3455    E-mail: editor@annchildneurol.org                

Copyright © 2024 by Korean Child Neurology Society.

Developed in M2PI

Close layer
prev next