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