Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing paroxysmal attacks, such as paresis and spasm, in pat...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2020-09-01
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| Series: | Case Reports in Neurology |
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| Online Access: | https://www.karger.com/Article/FullText/509287 |
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| author | Shouichirou Kusunoki Jun Kido Ken Momosaki Takaaki Sawada Tomoko Kashiki Shirou Matsumoto Kimitoshi Nakamura |
| author_facet | Shouichirou Kusunoki Jun Kido Ken Momosaki Takaaki Sawada Tomoko Kashiki Shirou Matsumoto Kimitoshi Nakamura |
| author_sort | Shouichirou Kusunoki |
| collection | DOAJ |
| description | Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing paroxysmal attacks, such as paresis and spasm, in patients with AHC is often difficult. An 8-month-old girl presented to our institution with intractable epilepsy. She developed AHC, with left-right alternating or bilateral recurrent plegia upon waking, involuntary movements, eye movement abnormalities, and psychomotor retardation. She had a heterozygous de novo p.E815K mutation in the ATP1A3gene. Patients with this mutation develop severe hemiplegic spells and convulsions, have a poor neuromotor developmental outcome, and are particularly difficult to treat. Flunarizine treatment has limited therapeutic effect in such patients; however, it was definitely effective for bulbar palsy in the present case. The present case further highlights the need for the development of other new treatments, such as a ketogenic diet. |
| first_indexed | 2024-12-20T15:09:40Z |
| format | Article |
| id | doaj.art-4ba39fbc37914b10b98b37a1d7e77a1c |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-12-20T15:09:40Z |
| publishDate | 2020-09-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-4ba39fbc37914b10b98b37a1d7e77a1c2022-12-21T19:36:21ZengKarger PublishersCase Reports in Neurology1662-680X2020-09-0112329930610.1159/000509287509287Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case ReportShouichirou KusunokiJun KidoKen MomosakiTakaaki SawadaTomoko KashikiShirou MatsumotoKimitoshi NakamuraAlternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing paroxysmal attacks, such as paresis and spasm, in patients with AHC is often difficult. An 8-month-old girl presented to our institution with intractable epilepsy. She developed AHC, with left-right alternating or bilateral recurrent plegia upon waking, involuntary movements, eye movement abnormalities, and psychomotor retardation. She had a heterozygous de novo p.E815K mutation in the ATP1A3gene. Patients with this mutation develop severe hemiplegic spells and convulsions, have a poor neuromotor developmental outcome, and are particularly difficult to treat. Flunarizine treatment has limited therapeutic effect in such patients; however, it was definitely effective for bulbar palsy in the present case. The present case further highlights the need for the development of other new treatments, such as a ketogenic diet.https://www.karger.com/Article/FullText/509287alternating hemiplegia of childhoodatp1a3e815kflunarizine |
| spellingShingle | Shouichirou Kusunoki Jun Kido Ken Momosaki Takaaki Sawada Tomoko Kashiki Shirou Matsumoto Kimitoshi Nakamura Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report Case Reports in Neurology alternating hemiplegia of childhood atp1a3 e815k flunarizine |
| title | Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report |
| title_full | Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report |
| title_fullStr | Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report |
| title_full_unstemmed | Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report |
| title_short | Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report |
| title_sort | effect of flunarizine on alternating hemiplegia of childhood in a patient with the p e815k mutation in atp1a3 a case report |
| topic | alternating hemiplegia of childhood atp1a3 e815k flunarizine |
| url | https://www.karger.com/Article/FullText/509287 |
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