J Korean Child Neurol Soc.  2018 Mar;26(1):32-37. 10.26815/jkcns.2018.26.1.32.

A Case of Effective Treatment of a Patient with PCDH 19-Related Epilepsy using Corticosteroid

• Lee DM
• Chung HJ

• KMID: 2435271
• DOI: http://doi.org/10.26815/jkcns.2018.26.1.32

Abstract

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.

Keyword

PCDH 19; Intractable epilepsy; X-linked mental retardation disorder; Female; Corticosteroids

MeSH Terms

Adrenal Cortex Hormones
Anticonvulsants
Child, Preschool
Drug Resistant Epilepsy
Early Diagnosis
Epilepsy*
Female
Fever
Humans
Seizures
Adrenal Cortex Hormones
Anticonvulsants