Basic and Clinical Neuroscience Journal
مجله علوم اعصاب پایه و بالینی
BCN
Medical Sciences
http://bcn.iums.ac.ir
137
journal137
2008-126X
2228-7442
10.32598/bcn
en
jalali
1395
1
1
gregorian
2016
4
1
7
2
online
1
fulltext
en
Case Report: Hallervorden–Spatz Syndrome with Seizures
Cellular and molecular Neuroscience
Cellular and molecular Neuroscience
News and Reports
News and Reports
<p dir="ltr" style="text-align: justify;">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<br>
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.</p>
Pantothenate Kinase-Associated Neurodegeneration, Autosomal recessive, Seizures
165
166
http://bcn.iums.ac.ir/browse.php?a_code=A-10-653-1&slc_lang=en&sid=1
Sunil
Gothwal
dr.sunilgothwal@gmail.com
1370031947532846007430
1370031947532846007430
Yes
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Swati
Nayan
dr.swatigothwal@gmail.com
1370031947532846007431
1370031947532846007431
No
Department of Obstetrics and Gynecology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.