>
Fa   |   Ar   |   En
   case report: hallervorden–spatz syndrome with seizures  
   
نویسنده gothwal sunil ,nayan swati
منبع basic and clinical neuroscience - 2016 - دوره : 7 - شماره : 2 - صفحه:165 -166
چکیده    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 andmultiple 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.
کلیدواژه pantothenate kinase-associated neurodegeneration ,autosomal recessive ,seizures
آدرس department of pediatrics, all india institute of medical sciences, new delhi, india., هندوستان, department of obstetrics and gynecology, sawai man singh medical college, jaipur, rajasthan, india., ایران
پست الکترونیکی dr.swatigothwal@gmail.com
 
     
   
Authors
  
 
 

Copyright 2023
Islamic World Science Citation Center
All Rights Reserved