Carrozzi Marco, Morelli Maria Elisa, Cirino Mario, Maestro Alessandra, Paternuosto Gilda, Benericetti Giulia, Bennati Giada, Bin Maura, Flamigni Anna, Pigato Federico, Maximova Natalia, Barbi Egidio, Zanon Davide
Institute for Maternal and Child Health Burlo Garofolo (IRCCS), Trieste, Italy.
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Front Med (Lausanne). 2025 Jan 7;11:1433217. doi: 10.3389/fmed.2024.1433217. eCollection 2024.
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that usually manifests before 18 months of age and is characterized by recurrent, alternating episodes of hemiparesis with variable frequency and can last from a few minutes to several days. We present a case of AHC in a little girl carrying a sporadic mutation in the ATP1A3 gene (p.Glu815Lys) refractory to flunarizine and non-compliant to topiramate due to adverse effects treated with oral compound of adenosine-5'-triphosphate (ATP) capsules. Outcome was evaluated through the follow-up and side effects and safety were monitored regularly. Compounded drug showed effectiveness and safety. Indeed, during the four-year follow-up, with the dose of adenosine-5'-triphosphate gradually increasing up to 21 mg/kg, the patient showed a substantial benefit in controlling the frequency and duration of hemiplegic episodes and an improvement in neurological deterioration.
儿童交替性偏瘫(AHC)是一种罕见的神经系统疾病,通常在18个月龄前发病,其特征为反复出现的交替性偏瘫发作,发作频率不定,持续时间从几分钟到几天不等。我们报告了一例患有ATP1A3基因(p.Glu815Lys)散发性突变的小女孩患AHC的病例,该患儿对氟桂利嗪难治,且因不良反应而不依从托吡酯治疗,后采用口服三磷酸腺苷(ATP)胶囊复方制剂进行治疗。通过随访评估结局,并定期监测副作用和安全性。复方药物显示出有效性和安全性。事实上,在四年的随访期间,随着三磷酸腺苷剂量逐渐增加至21mg/kg,患者在控制偏瘫发作的频率和持续时间方面有显著改善,神经功能恶化情况也有所改善。