Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome

Details

Serval ID
serval:BIB_F66C7115F752
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome
Journal
Molecular Syndromology
Author(s)
Gschwind M., Foletti G., Baumer A., Bottani A., Novy J.
ISSN
1661-8769 (Print)
1661-8777 (Electronic)
ISSN-L
1661-8769
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
6
Number
2
Pages
91-95
Language
english
Notes
Publication types: Case Report ; case-report Identifiant PubMed Central: PMC4521075
Abstract
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.
Keywords
Coffin-Lowry syndrome, Nonconvulsive status epilepticus, RPS6KA3 mutation c.575G>C (p.R192T), Stimulus-induced drop episodes
Pubmed
Open Access
Yes
Create date
25/07/2016 8:19
Last modification date
20/08/2019 16:22
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