Asian Journal of Case Reports in Medicine and Health

Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder primarily characterized by cerebellar degeneration manifested as ataxia, telangiectasia, immunodeficiency, and cancer susceptibility and radiation sensitivity. Clinically A-T cases presents itself with a variability of symptoms but basic primary presentations are almost always present. This case demonstrates a 7yrs old girl who presented with tremulousness of limbs, difficulty to move the eye ball with command and dysarthria. On further clinical examination, a plain MRI of Brain and other relevant investigations suggested this as a case of A-T. Thus rationale of this typical case report gives a glimpse about a variant of A-T which is often misdiagnosed as other ataxic disorders.