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Pelizaeus-Merzbacher Hastalığı ve MRSpektroskopi Bulguları: Vaka Sunumu

Pelizaeus-Merzbacher Disease and MR Spectroscopy Findings: A Case Report

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2009

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder of the CNS. The cause is abnormal production of proteolipid protein–1 (PLP-1 )that is a principal components of myelin. It is characterised by rotatory nistagmus, early muscular hypotonia, head shake, ataxia, spasticity and mental retardation. The diagnosis of PMD is with clinical findings, MRI and genetic analysis. MR spectroscopy findings of PMD show differences. However the MR spectroscopy may be helpful in the diagnosis and differential diagnosis of PMD. In this article, a case with PMD and MRS findings is reported in light of the literature.
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Abstract (Original Language): 
Pelizaeus-Merzbacher hastalığı (PMH) SSS’nin nadir görülen bir dismiyelinizan bozukluğu olup, miyelinin temel komponentlerinden biri olan proteolipit protein-1 üretimindeki anormallik sonucu oluşur. Rotatuar nistagmus, kas hipotonisi, baş sallama, ataksi, spastisite ve zeka geriliği ile karakterizedir. Tanı klinik, genetik ve manyetik rezonans görüntüleme (MRG) bulguları ile birlikte konulur. MR spektroskopi bulguları ise farklılık göstermektedir. Ancak PMH’nin tanı ve ayırıcı tanısında manyetik rezonans spektroskopi (MRS) yardımcı bir tanı yöntemi olarak kullanılabilir. Bu makalede PMH’li bir vaka ve MRS bulguları literatür bilgileri ışığında sunulmuştur.
FULL TEXT (PDF): 
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  • 4
265-267
  • Turkish

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