Titre
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome
Type
étude de cas
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Gschwind, M.
Auteure/Auteur
Foletti, G.
Auteure/Auteur
Baumer, A.
Auteure/Auteur
Bottani, A.
Auteure/Auteur
Novy, J.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1661-8769
Statut éditorial
Publié
Date de publication
2015
Volume
6
Numéro
2
Première page
91
Dernière page/numéro d’article
95
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Case Report ; case-report Identifiant PubMed Central: PMC4521075
Résumé
Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly affected. CLS is well known for stimulus-induced drop episodes; however, epilepsy is not commonly reported in this condition. We report on a CLS patient presenting with recurrent episodes of nonconvulsive status epilepticus (NCSE) with generalized epileptic activity, for which investigations did not find any other cause than the patient's genetic condition. This case underlines that the possibility of nonconvulsive epileptic seizures and status epilepticus should, therefore, be considered in those patients. The treatable diagnosis of NCSE may easily be overlooked, as symptoms can be unspecific.
PID Serval
serval:BIB_F66C7115F752
PMID
Open Access
Oui
Date de création
2016-07-25T07:19:06.922Z
Date de création dans IRIS
2025-05-21T05:38:51Z