Berke ARAS, evren YAŞAR, Kutay TEZEL, Mazlum Serdar AKALTUN, Yasin DEMİR

Pelizaeus-Merzbacher hastalığı olan pediatrik bir hastada rehabilitasyon deneyimi

Experience of rehabilitation in a pediatric patient with Pelizaeus-Merzbacher's disease

PDF

___

1. Spalice A, Popolizio T, Parisi P, Scarabino T, Iannetti P.. Proton MR spectroscopy in connatal Pelizaeus-Merzbacher disease. Pediatr Radiol. 2000;30:171-5.
2. Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus Merzbacher disease. Pediatr Neurol. 1997;17:125-8.
3. Barkovich AJ. Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 2005;28:311-43.
4. Chen YC, Liang WC, Su YN, Jong YJ. Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebralpalsy: a report of a three-generation family. Pediatr Neonatol. 2014;55:150-3.
5. Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Pelizaeus-Merzbacher disease cellular pathogenesis and pharmacologic therapy. Pediatr Int. 2014;56:659-66.
6. Brender T, Wallerstein D, Sum J, Wallerstein R. Unusual presentation of Pelizaeus-Merzbacher disease: femalepatientwithdeletion of theproteolipid protein 1 gene. Case Rep Genet. 2015;2015:453105.
7. Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B et al. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am J Hum Genet. 1999;65:360-9.
8. Boespflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, PhamDinh D et al. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet. 1994;55:461-7.