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

Journal of Nepal Paediatric Society

MC Mathews²  Susan Mary George¹ 

[1] MBBS, MRCPCH, PhD, Visiting Paediatrician, Department of Developmental Paediatrics and Child Neurology, MOSC Medical College, Kolenchery;MBBS MD (Paed), PhD (Neuro), DNB (MCH), DCBR (Lon),DPH, DADR, DFDR, Professor and Consultant Developmental Neurologist, Department of Developmental Paediatrics and Child Neurology, MOSC Medical College, Kolenchery

关键词: Ataxia;    Autosomal recessive ataxia;    Ataxia telangiectasia;   

DOI  :  

学科分类：儿科学

来源: Nepal Paediatric Society

【 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.

【 授权许可】

Unknown