Ataxia Telangiectasia With Giant Suprasellar Arachnoid Cyst - a Case Report and a Brief Review Publisher



Ashrafi MR¹ ; Nikkhah A² ; Heidari M^{1, 2} ; Shahbodaghkhan G¹ ; Sinaei R¹ ; Azizahari S¹ ; Yousefimanesh H¹
Source: Iranian Journal of Child Neurology Published:2025

Abstract

Ataxiatelangiectasia (A-T) is an infrequent genetic neurodegenerative disorder inherited autosomal recessively. It is mainly characterized by early-onset progressive cerebellar ataxia and dilated capillaries in the oculocutaneous regions especially conjunctivae so-called telangiectasia. A-T is a multisystem disorder and requires multi-disciplinary approach to management. Diagnosis is difficult in some cases because presentation is not in the same manner and showing a phenotypic spectrum. In atypical cases serum immunoglobulins and alfa fetoprotein are normal and telangiectasia is absent. We present a 5.5-year-old boy with progressive cerebellar ataxia and history of repeated sino-pulmonary infections that was homozygote for ataxia-telangiectasia mutated gene and had a giant arachnoid cyst in left hemisphere. It is important to keep in mind those cases with ataxia and repeated sino-pulmonary infections may be ataxia telangectasia patients. Genetic study is helpful and confirms the diagnosis by showing ataxia-telangiectasia mutated gene. © 2025 The Authors. Published by Shahid Beheshti University of Medical Sciences.