A case of Ataxia Telangiectasia with normal Neuroimaging. An Atypical presentation

Abstract

Ataxia telangiectasia (A-T) is a progressive neurodegeneration disorder inherited in an autosomal recessive pattern. It is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which is responsible for cellular signaling pathways regulation in response to DNA double strand breaks, and other genotoxic stresses. Cerebellar manifestations are earliest and predominant including truncal and axial ataxia, nystagmus, and slurred speech etc. Ocular and cutaneous telangiectasia usually appears in school going age and are the pathognomonic findings. Other manifestations include immunodeficiency characterized by recurrent sinopulmonary infections, low IQ and cancer susceptibility along with sensitivity to ionizing radiations. Serum alpha-fetoprotein levels are typically elevated and MRI brain often shows cerebellar degeneration. We report a case of a 12-year-old girl with a clinical finding suggestive of A-T, but with normal MRI brain. This case highlights the clinical spectrum of A-T and underscores the importance of early diagnosis and symptomatic management to reduce morbidity.