Hallervorden-Spatz Syndrome with Seizures.
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.
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sunil
S
Gothwal
Department of Obstetrics and Gynecology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
Swati
S
Nayan
Autosomal recessive; Pantothenate Kinase-Associated Neurodegeneration; Seizures