Volume 7, Number 2 (Spring 2016 -- 2016)                   BCN 2016, 7(2): 165-166 | Back to browse issues page




DOI: 10.15412/J.BCN.03070210
PMID: 27303611
PMCID: PMC4892321

Cited 0 times in PubMed Central

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Gothwal S, Nayan S. Case Report: Hallervorden–Spatz Syndrome with Seizures. BCN. 2016; 7 (2) :165-166
URL: http://bcn.iums.ac.ir/article-1-535-en.html

1- MD Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
2- MS Department of Obstetrics and Gynecology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
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.

Type of Study: News and Reports | Subject: Cellular and molecular Neuroscience
Received: 2015/07/8 | Accepted: 2015/10/18 | Published: 2016/04/1

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