Year: 2018 | Month: March | Volume: 8 | Issue: 3 | Pages: 279-281
Ataxia Telangiectasia: A Case Report
Abdullah Al Saleh
Department of Family Medicine and Primary Care/Comprehensive Specialized Clinic, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Ataxia Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent respiratory and sinus infections. AT is caused by a defect in the ATM gene, the only gene known to be associated with AT. I am reporting on an eight-year-old Saudi girl who presented with an unsteady gait, frequent falls, and telangiectasia of the eyes. She has also had frequent episodes of respiratory tract infections.
Key words: Ataxia telangiectasia, ATM gene, Cerebellar atrophy.