Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a

Developmental and epileptic encephalopathy Developmental regression Epilepsy Neurodevelopmental disorder PCDH19-related epilepsy SMC1A

Journal

Epilepsy & behavior reports
ISSN: 2589-9864
Titre abrégé: Epilepsy Behav Rep
Pays: United States
ID NLM: 101750909

Informations de publication

Date de publication:
2023
Historique:
received: 28 12 2021
revised: 11 11 2023
accepted: 13 11 2023
medline: 11 12 2023
pubmed: 11 12 2023
entrez: 11 12 2023
Statut: epublish

Résumé

Developmental and epileptic encephalopathies (DEE) are conditions in which a mutated gene may cause abnormal functioning of the central nervous system, resulting in both encephalopathy and epileptogenesis. We present a case of a girl with a DEE characterized by a Rett-like phenotype in association with febrile and afebrile clusters of focal seizures. The girl presented typical development until the age of 18 months, followed by regression. The first febrile bilateral tonic-clonic seizure was observed at 30 months of age, and the following month seizures recurred in clusters of several episodes per day every 10 days. These seizures were characterized by behavioural arrest, emotional symptoms, head turning, and followed by bilateral tonic-clonic seizures. The administration of valproic acid and levetiracetam led to prolonged seizure control. However, from the age of 7 years, she had monthly recurrent clusters of focal seizures and non-convulsive status epilepticus which occurred at different ages. Brain and spinal cord MRI showed mild non-progressive hemispheric cerebellar atrophy. A next generation sequencing panel for epilepsy identified the

Identifiants

pubmed: 38076278
doi: 10.1016/j.ebr.2023.100634
pii: S2589-9864(23)00052-7
pmc: PMC10709160
doi:

Types de publication

Journal Article

Langues

eng

Pagination

100634

Informations de copyright

© 2023 The Authors.

Déclaration de conflit d'intérêts

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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Auteurs

L Parmeggiani (L)

Child Neurology and Rehabilitation Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

F Stanzial (F)

Genetic Counseling Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

E Menna (E)

Child Neurology and Rehabilitation Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

E Boni (E)

Child Neurology and Rehabilitation Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

F Manzoni (F)

Child Neurology and Rehabilitation Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

F Benedicenti (F)

Genetic Counseling Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

S Pellegrin (S)

Child Neurology and Rehabilitation Service - Regional Hospital of Bolzano, Via Lorenz Böhler, 5, 39100 Bolzano (BZ), Italy.

Classifications MeSH