Ataxia telangiectasia

Sanaa Khalid Mukhtar, Mohamed Widatalla Ali

Abstract


We report a rare case of a seven- years- old boy from Kosti who presented with progressive ataxia since
the age of three. Two years later he developed conjunctival telangiectasia .Examination revealed occulomotor
apraxia. A diagnosis of ataxia telangiectasia was made on clinical findings; low immunoglobulins;
high alpha fetoprotein levels and cerebellar atrophy on cranial’s MRI. A coordinated multidisciplinary
healthcare with follow- up was offered and intravenous immunoglobulin was given on a monthly basis

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ISSN: 1858-5345