Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report

Shouichirou Kusunoki Jun Kido Ken Momosaki Takaaki Sawada
Tomoko Kashiki Shirou Matsumoto Kimitoshi Nakamura
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan

Abstract
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 ATP1A3 gene. 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 a 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.

Copy link: https://www.karger.com/Article/Pdf/509287

509287

0 0 votes
Article Rating
Subscribe
Notify of
0 Comments
Inline Feedbacks
View all comments

Related Post

‘AHC and ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou‘AHC and ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou

Thank you to everyone who joined in this helpful Question & Answer session in November of last year with Dr. Katerina Vezyroglou on her research work. As promised, we have included the link to the recorded zoom session for those of you who were unable to attend the event.    We hope you find this helpful and as in the session,  Dr. Vezyrouglou is very happy to hear from anyone who would like to ask  any more questions. All questions are welcome.    As discussed in the zoom chat, this project also feeds into the OBSERV AHC natural history study involving many international centers.  

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort studyCardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

 View ORCID Profile Simona Balestrini, Mohamad A Mikati, Reyes Alvarez Garcia-Roves,  View ORCID Profile Michael Carboni, Arsen S Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi,  View ORCID Profile Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro,  View

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhoodRHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood

Sara Zagaglia, Dora Steel, S Krithika, Laura Hernandez-Hernandez, Helena Martins Custodio, Kathleen M Gorman, Aikaterini Vezyroglou,  View ORCID Profile Rikke S Møller, Mary D King FRCPCH, Trine Bjørg Hammer,  View ORCID Profile Robert Spaull, Walid Fazeli, Tobias Bartolomaeus, Diane Doummar, Boris Keren, Cyril Mignot, Nathalie Bednarek, J

0
Would love your thoughts, please comment.x
()
x