G190(P) PCDH 19 epilpesy, (a rare but recognisable genetic epilepsy syndrome)- our experience with two female siblings. (May 2019)

• Record Type: Journal Article
• Authors: Jayachandran, D; Dobson, J
• Is Part Of: Archives of disease in childhood. Volume 104:Supplement 2(2019)
• Page Start: A77
• Page End: A77
• Publication Date: 2019-05
• Subjects: Infants -- Diseases -- Periodicals; Newborn infants -- Diseases -- Periodicals; Fetus -- Diseases -- Periodicals; 618.920105
• DOI: 10.1136/archdischild-2019-rcpch.185
• Languages: English
• ISSNs: 1359-2998

Abstract

Abstract : Aim: To report two cases of Protocadherin 19 (PCDH 19) related epilepsy in two female siblings with familial inheritance. 5 years old older sibling developed seizures at the age of 10 months. Her first admission was with cluster of brief tonic seizuers associated with staring; clonic seizures and a few prolonged generalised tonic clonic seizures. Awake and Sleep EEG showed focal slowing predominantly in the left temporal lobe. She was labelled as non lesional focal epilepsy after a normal MRI scan and was discharged on Keppra. Array CGH was normal. She had multiple admissions with cluster of brief seizures during a 24–72 hour period at the age of 12, 16, 25, 26, 34, 38 and 46 months associated sometimes with febrile illness with poor response to intravenous AED's. Speech and language delay was evident from the age of 18 months and delayed social and play skills at the age of 3 years. She was diagnosed to have autism at the age of 3.5 years. Follwing her sibling's seizures and a postive family history she was tested for PCDH 19 gene and found to be heterozygous for PCDH 19 gene mutation. 27 months old younger Sibling had seizure onset at the age of 9 months. Seizures were tonic in nature, brief, multiple in clusters over a period of 2–3 days. EEG's showed non specific slowing during seizures. Metabolic tests were normal. Array cGH revealed chromosome 3 p26.1 microdeletion. Keppra was commenced and increased but recurrent cluster of seizures at the age of 15 and 19 months required admission with poor response to intravenous AED's. Family history revealed that half sister (biological father's daughter who had epilepsy and global developmental delay) was diagnosed recently with PCDH 19 epilepsy. Gene tests were requested on both siblings and she was also postive for PCDH 19 mutation. She has delayed social and communication skills at the age of 24 months and is undergoing Autism assessments. Conclusion: PCDH 19 epilepsy is increasingly recognised as one of the early onset infantile encephalopathies that resemble Dravet Syndrome. Gene testing is likely to yield a diagnosis with a family history or with a typical phenotype.