Hallervorden-Spatz Syndrome with Seizures.

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.

• Authors: Sunil Gothwal, Swati Nayan
• Journal: Basic and clinical neuroscience (Basic Clin Neurosci) Vol. 7 Issue 2 Pg. 165-6 (Apr 2016) ISSN: 2008-126X [Print] Iran
• PMID: 27303611 (Publication Type: Case Reports)