Medicine · 2025
Ketogenic diet for alternating hemiplegia of childhood: Case report and literature review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Yang Yu, Liu Penghui, Li Pei, Huang Yanru, Hu Shuxiang
Аннотация
RATIONALE: Alternating hemiplegia of childhood (AHC) is a serious and rare neurological disease caused by mutations in the ATP1A3 gene. Patients mainly present with paroxysmal hemiplegia, dystonia, abnormal eye movement, dyspnea, and other autonomic neurological phenomena.
PATIENT CONCERNS: Here, we described a patient who initially presented with abnormal eye movements, followed by the subsequent development of seizures and alternating hemiplegia.
DIAGNOSES: Whole exome sequencing identified a heterozygous variant in the ATP1A3 gene: c.2443G > A (p.Glu815Lys). Thus, the patient was diagnosed with AHC.
INTERVENTIONS: Flunarizine combined with oxcarbazepine did not improve clinical symptoms.
OUTCOMES: Interestingly, typical AHC paroxysmal episodes gradually improved after starting the ketogenic diet, but the seizures did not resolve. Long-term follow-up shows a global improvement in neurological development.
LESSONS: Our case reinforces the role of the ketogenic diet as a novel therapeutic option for AHC. However, further specific confirmatory tests are necessary.
PATIENT CONCERNS: Here, we described a patient who initially presented with abnormal eye movements, followed by the subsequent development of seizures and alternating hemiplegia.
DIAGNOSES: Whole exome sequencing identified a heterozygous variant in the ATP1A3 gene: c.2443G > A (p.Glu815Lys). Thus, the patient was diagnosed with AHC.
INTERVENTIONS: Flunarizine combined with oxcarbazepine did not improve clinical symptoms.
OUTCOMES: Interestingly, typical AHC paroxysmal episodes gradually improved after starting the ketogenic diet, but the seizures did not resolve. Long-term follow-up shows a global improvement in neurological development.
LESSONS: Our case reinforces the role of the ketogenic diet as a novel therapeutic option for AHC. However, further specific confirmatory tests are necessary.