Title of article :
Case Report: Hallervorden–Spatz Syndrome with Seizures
Author/Authors :
Gothwal، Sunil نويسنده Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Gothwal, Sunil , Nayan، Swati نويسنده Department of Obstetrics and Gynecology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India. Nayan, Swati
Issue Information :
فصلنامه با شماره پیاپی 27 سال 2016
Abstract :
Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and
multiple injury marks of different stages. Seizures are rare with PANK2. This child had seizure onset at 4 years of age and seizure free on valproate and levetricetam. The CT scan showed tiger eye appearance and mutations on PANK2 gene.
Journal title :
Basic and Clinical Neuroscience
Journal title :
Basic and Clinical Neuroscience