Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome
| Autor: | Alessandra Baumer, Markus Gschwind, Armand Bottani, Jan Novy, Giovanni Foletti |
|---|---|
| Přispěvatelé: | University of Zurich |
| Rok vydání: | 2015 |
| Předmět: |
2716 Genetics (clinical)
Coffin–Lowry syndrome Pediatrics medicine.medical_specialty 10039 Institute of Medical Genetics business.industry RPS6KA3 gene 610 Medicine & health Case Report Status epilepticus medicine.disease Genetic Condition Epileptic activity Epilepsy CLs upper limits 1311 Genetics Intellectual disability Genetics medicine 570 Life sciences biology medicine.symptom business Genetics (clinical) |
| Zdroj: | Molecular Syndromology. 6:91-95 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000430429 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|