George, Susan MaryMathews, MC2026-03-262026-03-262014https://hdl.handle.net/20.500.14572/5485Susan Mary George MBBS, MRCPCH, PhD, Visiting Paediatrician, Department of Developmental Paediatrics and Child Neurology, MOSC Medical College, Kolenchery MC Mathews 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, KolencheryAbstract: 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.en-USAtaxiaAutosomal recessive ataxiaAtaxia telangiectasiaArticle