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

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v34i2.9694

Keywords:

Ataxia, Autosomal recessive ataxia, Ataxia telangiectasia

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.

DOI: http://dx.doi.org/10.3126/jnps.v34i2.9694

J Nepal Paediatr Soc 2014;34(2):138-140

 

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Author Biography

Susan Mary George, MBBS, MRCPCH, PhD, Visiting Paediatrician, Department of Developmental Paediatrics and Child Neurology, MOSC Medical College, Kolenchery

Dr Susan M. George MBBS, MRCPCH, PhD

Paediatrician

Dr Megh Bahadur Parajuli Community Hospital 

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Published

2014-10-30

How to Cite

George, S. M., & Mathews, M. (2014). Ataxia Telangiectasia: Case Report from a Rural Hospital in Nepal and Current Management Recommendation. Journal of Nepal Paediatric Society, 34(2), 138–140. https://doi.org/10.3126/jnps.v34i2.9694

Issue

Vol. 34 No. 2 (2014)

Section

Brief Reports/Case Reports/Case Series

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