DR. ARYA WAKANKAR

Dr. Bhagyajyothi B. K., DR. NAMITHA PRAKASH, DR. PRANEET TELUKUNTA

Abstract

Introduction:Pantothenate kinase–associated neurodegeneration is a rare AR disorder characterized by neurodegeneration and iron accumulation in the brain,due to Pantothenate Kinase 2 (PANK2) gene mutations leading to extrapyramidal signs,vision loss,and intellectual decline

Purpose:To report a case of Pantothenate kinase associated neurodegeneration (PKAN) also known as Hallervorden-Spatz syndrome

Method:A 10-year-old male child presented with features of generalized dystonia,choreoathetoid movements and speech disturbance since 2 years of age with complaints of diminution of vision at night.O/E:Child fixates and follows light and normal anterior segment noted

Fundus:Bull’s eye maculopathy and bony spicules in the periphery along with arteriolar attenuation suggestive of retinitis pigmentosa. MRI showed Eye of tiger sign in globus pallidus

Conclusion:Visual prognosis for classic PKAN is poor where nyctalopia is followed by progressive loss of peripheral visual fields and even blindness