Publication: Ataxia Telangiectasia: Case Report from a Rural Hospital in Nepal and Current Management Recommendation
Date
2014
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
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.
Description
Susan 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, Kolenchery
Keywords
Ataxia, Autosomal recessive ataxia, Ataxia telangiectasia