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Epilepsy in spinocerebellar ataxia type 8: a case report
BACKGROUND: Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities. Seizures are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a pati...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857283/ https://www.ncbi.nlm.nih.gov/pubmed/31727178 http://dx.doi.org/10.1186/s13256-019-2270-x |
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author | Swaminathan, Arun |
author_facet | Swaminathan, Arun |
author_sort | Swaminathan, Arun |
collection | PubMed |
description | BACKGROUND: Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities. Seizures are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a patient with spinocerebellar ataxia type 8. This case report highlights the need to evaluate spells in patients with a known neurodegenerative or genetic disease to exclude seizures, and it stresses the importance of timely diagnosis and therapy. CASE PRESENTATION: The patient was a 22-year-old Caucasian woman with known spinocerebellar ataxia 8 since age 10 years. She was admitted to our hospital with new-onset left hemiparesis and encephalopathy in addition to chronic occurrence of multiple spells of confusion and oromanual automatisms with postictal lethargy. Testing confirmed that she was having recurrent seizures with episodes of nonconvulsive status epilepticus. Urgent treatment with antiepileptic therapy was initiated; her seizures resolved shortly thereafter, and her mental status improved. Her left hemiparesis has improved; she remains seizure-free; and she has returned to her baseline antiepileptic medications following physical therapy. CONCLUSIONS: Seizures have been reported extremely rarely in association with spinocerebellar ataxia 8, but they must be considered in the differential diagnosis of patients with spells of altered awareness, especially in those with a known neurodegenerative or genetic condition. Clinicoradiological correlation with symptoms can help expedite diagnosis and treatment. Expert consultation with epileptologists at the earliest signs can help establish the diagnosis quickly, minimize morbidity, and enhance recovery. |
format | Online Article Text |
id | pubmed-6857283 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-68572832019-12-05 Epilepsy in spinocerebellar ataxia type 8: a case report Swaminathan, Arun J Med Case Rep Case Report BACKGROUND: Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities. Seizures are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a patient with spinocerebellar ataxia type 8. This case report highlights the need to evaluate spells in patients with a known neurodegenerative or genetic disease to exclude seizures, and it stresses the importance of timely diagnosis and therapy. CASE PRESENTATION: The patient was a 22-year-old Caucasian woman with known spinocerebellar ataxia 8 since age 10 years. She was admitted to our hospital with new-onset left hemiparesis and encephalopathy in addition to chronic occurrence of multiple spells of confusion and oromanual automatisms with postictal lethargy. Testing confirmed that she was having recurrent seizures with episodes of nonconvulsive status epilepticus. Urgent treatment with antiepileptic therapy was initiated; her seizures resolved shortly thereafter, and her mental status improved. Her left hemiparesis has improved; she remains seizure-free; and she has returned to her baseline antiepileptic medications following physical therapy. CONCLUSIONS: Seizures have been reported extremely rarely in association with spinocerebellar ataxia 8, but they must be considered in the differential diagnosis of patients with spells of altered awareness, especially in those with a known neurodegenerative or genetic condition. Clinicoradiological correlation with symptoms can help expedite diagnosis and treatment. Expert consultation with epileptologists at the earliest signs can help establish the diagnosis quickly, minimize morbidity, and enhance recovery. BioMed Central 2019-11-15 /pmc/articles/PMC6857283/ /pubmed/31727178 http://dx.doi.org/10.1186/s13256-019-2270-x Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Swaminathan, Arun Epilepsy in spinocerebellar ataxia type 8: a case report |
title | Epilepsy in spinocerebellar ataxia type 8: a case report |
title_full | Epilepsy in spinocerebellar ataxia type 8: a case report |
title_fullStr | Epilepsy in spinocerebellar ataxia type 8: a case report |
title_full_unstemmed | Epilepsy in spinocerebellar ataxia type 8: a case report |
title_short | Epilepsy in spinocerebellar ataxia type 8: a case report |
title_sort | epilepsy in spinocerebellar ataxia type 8: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857283/ https://www.ncbi.nlm.nih.gov/pubmed/31727178 http://dx.doi.org/10.1186/s13256-019-2270-x |
work_keys_str_mv | AT swaminathanarun epilepsyinspinocerebellarataxiatype8acasereport |