Ataxia Telangiectasia: Case Report from a Rural Hospital in Nepal and Current Management Recommendation

[摘要] It is important though challenging to make accurate diagnosis of neurodegenerative conditions in children and initiate the right treatment. A 14 years old boy presented with deterioration in speech, mobility and performance of daily activities and frequent chest infections over four years. Aided ataxic gait, dysarthria, stooped posture, generalised hypotonia and weakness and ocular telangiectasia were noted. We present a case of Ataxia telangiectasia from a rural hospital in Nepal.

[学科分类] 儿科学

[关键词] Ataxia;Autosomal recessive ataxia;Ataxia telangiectasia