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Paper Information

Journal:   BASIC AND CLINICAL NEUROSCIENCE   APRIL 2016 , Volume 7 , Number 2; Page(s) 165 To 166.
 
Paper: 

CASE REPORT: HALLERVORDEN-SPATZ SYNDROME WITH SEIZURES

 
 
Author(s):  GOTHWAL SUNIL*, NAYAN SWATI
 
* DEPARTMENT OF PEDIATRICS, ALL INDIA INSTITUTE OF MEDICAL SCIENCE, NEW DELHI, 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.

 
Keyword(s): PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, AUTOSOMAL RECESSIVE, SEIZURES
 
References: 
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