Stress-induced childhood-onset neurodegeneration with ataxia and seizures syndrome caused by ADPRS gene mutation: a case report

VernacularTitle:ADPRS基因相关应激诱发的儿童神经变性病伴共济失调和癫痫综合征1例
Author: Shasha LONG ¹ ; Min ZHANG ; Yi WANG
Author Information

1. 国家儿童医学中心　复旦大学附属儿科医院神经内科，上海　201102
Keywords: Unsteady gait; Infection; Stress; Ataxia; ADPRS gene
From: Chinese Journal of Neurology 2024;57(12):1362-1366
CountryChina
Language:Chinese
Abstract: A case of stress-induced childhood-onset neurodegeneration with ataxia and seizures syndrome due to a compound heterozygous mutation in the ADPRS gene was reported. The child developed episodic ataxia after recurrent upper respiratory tract infections, manifested as unsteady gait, abnormal walking posture, and motor and cognitive regression as the number of episodes increased. Treatment with gammaglobulin in the acute phase transiently improved ataxia symptoms, and hormone therapy was ineffective, however the long-term prognosis was poor, and the patient eventually died due to postictal acute coma. There is no specific treatment for this disease, and the disease progresses rapidly after seizures, with a high mortality rate and poor long-term prognosis.