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
Highlights
Paediatric neuro-degenera ve condi ons can be challenging in resource poor se ngs- both for the pa ents with financial constraints, and the clinicians with limited facili es
We report a pa ent with Ataxia Talangiectasia (AT), a rare progressive gene c neurological condi on
A 14 years old Nepali boy from a lower middle class Hindu Brahmin family presented with history of inability to walk independently, slurred speech, difficulty in wri ng, and lack of independence in performing day to day ac vi es to the Paediatric outpa ent clinic in this rural hospital
Summary
Paediatric neuro-degenera ve condi ons can be challenging in resource poor se ngs- both for the pa ents with financial constraints, and the clinicians with limited facili es. A 14 years old Nepali boy from a lower middle class Hindu Brahmin family presented with history of inability to walk independently, slurred speech, difficulty in wri ng, and lack of independence in performing day to day ac vi es to the Paediatric outpa ent clinic in this rural hospital. He was the first born of nonconsanguineous parents, and there were no similar condi ons in the family. Management: The diagnosis and prognosis were explained to the parents, and the child was commenced on regular mul -vitamin supplements and prophylac c dose of Penicillin-V to prevent sinopulmonary infec ons
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