Apil Upreti, Prince Mandal, Amit Upreti, Srijana Sapkota, Sristi Acharya, Avash Yogi, Bikash Gauchan, Suman Bhattarai, Lekhjung Thapa
INTRODUCTION AND IMPORTANCE: Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder with early childhood onset. It is characterized by ataxia, oculocutaneous telangiectasia, immunodeficiency, and lymphoid-origin cancer predisposition due to ataxia telangiectasia mutated gene mutations. CASE PRESENTATION: The authors present a 19-year-old girl with spastic movements since 18 months, leading to wheelchair dependence. Ocular telangiectasia, dystonic posture, and slurred speech were evident...
April 2024: Annals of Medicine and Surgery