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

Abstract

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. Key words: Pelizaeus-Merzbacher Disease, Magnetic Resonance, Spectroscopy

Keywords

• Pelizaeus-Merzbacher Disease, Magnetic Resonance, Spectroscopy

Pelizaeus-Merzbacher Hastalığı ve MR-Spektroskopi Bulguları: Vaka Sunumu

Öz

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. Anahtar kelimeler: Pelizaeus-Merzbacher Hastalığı, Manyetik Rezonans, Spektroskopi

Anahtar Kelimeler

• Pelizaeus-Merzbacher Hastalığı, Manyetik Rezonans, Spektroskopi

Kaynakça

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