Bhardwaj Naveen Kumar, Gowda Vykuntaraju K, Sardesai Ashwin Vivek
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
J Pediatr Genet. 2021 Jun;10(2):111-115. doi: 10.1055/s-0040-1714702. Epub 2020 Aug 13.
Alternating hemiplegia of childhood (AHC) is a rare autosomal dominant neurodevelopmental disorder with mutation on gene. Delay in diagnosis and inappropriate diagnosis are common. In this article, we described four genetically confirmed AHC patients to provide an improved understanding of the disorder. First symptom in two patients was seizures and in other two patients was abnormal eye deviation. All had onset of plegic attacks within the first 18 months of their life. Tone abnormalities and movement disorders were present in all patients. Electroencephalogram was abnormal in two patients and all had normal magnetic resonance imaging of the brain. Response to treatment of plegic attacks was poor and also epilepsy was drug resistant. All cases had significant development delay and disability as of last follow-up. Although there is no effective treatment so far, early diagnosis is required to avoid unnecessary treatment.
儿童交替性偏瘫（AHC）是一种罕见的常染色体显性神经发育障碍，由基因突变引起。诊断延迟和诊断不当很常见。在本文中，我们描述了4例经基因确诊的AHC患者，以增进对该疾病的了解。2例患者的首发症状为癫痫发作，另外2例患者的首发症状为异常眼偏斜。所有患者均在出生后的前18个月内出现偏瘫发作。所有患者均存在肌张力异常和运动障碍。2例患者脑电图异常，所有患者脑部磁共振成像均正常。偏瘫发作的治疗反应不佳，癫痫也耐药。截至最后一次随访，所有病例均有明显的发育迟缓及残疾。虽然目前尚无有效治疗方法，但仍需要早期诊断以避免不必要的治疗。
