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Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report.
Nagarajan, Lakshmi; Ghosh, Soumya; Dyke, Jason; Lee, Sharon; Silberstein, Jonathan; Azmanov, Dimitar; Richard, Warne.
Afiliação
  • Nagarajan L; Children's Neuroscience Service, Dept of Neurology, Perth Children's Hospital, Nedlands, WA 6009, Australia.
  • Ghosh S; School of Medicine, University of Western Australia, WA 6009, Australia.
  • Dyke J; Children's Neuroscience Service, Dept of Neurology, Perth Children's Hospital, Nedlands, WA 6009, Australia.
  • Lee S; Perron Institute for Neurological and Translational Science, University of Western Australia. WA 6009, Australia.
  • Silberstein J; School of Medicine, University of Western Australia, WA 6009, Australia.
  • Azmanov D; PathWest Neuropathology, Royal Perth Hospital, Victoria Street, Perth, WA 6000, Australia.
  • Richard W; School of Medicine, University of Western Australia, WA 6009, Australia.
Epilepsy Behav Rep ; 19: 100560, 2022.
Article em En | MEDLINE | ID: mdl-35856042
We report a female child with PCDH19 related developmental and epileptic encephalopathy with drug-resistant seizures, cognitive and language impairment, autism spectrum disorder and sleep dysfunction. Her seizures, which started at 10 months of age, were resistant to multiple anti-seizure medications. Developmental stagnation followed by regression occurred after the onset of recurrent seizures. Her ictal EEGS suggested left temporal lobe origin for her recorded seizures. MRI upon expert re-review showed a subtle abnormality in the left temporal lobe. In view of the severe nature and frequency of her seizures, a left temporal lobectomy was undertaken at the age of 2 years and 3 months. Though her seizure outcome was Engel class 3, her seizure frequency and severity were significantly reduced. She has been seizure-free for 10 months at her last outpatient assessment when she was 4 years and 8 months of age (2 years and 5 months after epilepsy surgery). However she recently had an admission for COVID19 infection, with a breakthrough cluster of seizures. Her developmental trajectory changed, though she is making good progress with her cognitive and language skills.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article