Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Neuromuscul Disord
; 31(7): 656-659, 2021 07.
Article
em En
| MEDLINE
| ID: mdl-34078557
ABSTRACT
Andersen-Tawil syndrome is a rare, autosomal dominant, multisystem disorder for which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. The syndrome is characterized by the clinical triad of episodic paralysis, cardiac conduction abnormalities, and dysmorphic facial and skeletal features. Treatment of Andersen-Tawil syndrome is primarily focused on management of cardiac arrhythmias and preventive management of paralytic attacks. Dichlorphenamide is approved by the US Food and Drug Administration for use in primary periodic paralysis based on several randomized, controlled trials but has not been studied in patients with Andersen-Tawil syndrome. Here, we report a case of the syndrome caused by a de novo pathogenic variant in the KCNJ2 gene (c.95_98del). The paralytic attack rate for this patient was better controlled with dichlorphenamide compared with acetazolamide, further supporting the use of dichlorphenamide in patients with Andersen-Tawil syndrome.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Inibidores da Anidrase Carbônica
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Debilidade Muscular
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Diclorofenamida
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Síndrome de Andersen
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Acetazolamida
Tipo de estudo:
Clinical_trials
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos