how to cite this article: karimzadeh p. pelizaeus-merzbacher- disease (pmd) and pelizaeus-merzbacher-like disease (pmld). iran j child neurol autumn 2014;8:4 (suppl.1):9-10.   pls see pdf.

Case presentation: FHTA, male, 12 years old, child of a non-consanguineous couple, history fetal distress, born at term, Apgar ⅞. Reported nystagmus since birth, difficulty controlling the head and hypotonia, despite maintaining eye contact, recognizing voices smiling. First evaluation with Pediatric Neurologist was 5 months clinical features horizontal vertical nystagmus, circumference 43.5 cm...

INTRODUCTION In the absence of acute myocardial infarction (MI), ischemic papillary muscle dysfunction (PMD) is a rare complication of coronary artery disease. Dynamic PMD results in intermittent mitral regurgitation (MR). We present a successfully-treated case of recurrent pulmonary edema due to dynamic PMD secondary to chronic coronary heart disease involving the mitral apparatus. A pathophys...

OBJECTIVES At present, there are almost no report concerning post micturition dribble (PMD) in lower urinary tract symptoms (LUTS). PMD may have a negative effect on the quality of life (QOL) of afflicted patients. However, question concerning PMD are not included in the International Prostate Symptom Score (IPSS) questionnaire, and a number of questions about PMD remain to be addressed, such a...

Pelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene. Although PLP1 proteins with missense mutations have been shown to accumulate in the rough endoplasmic reticulum (ER) in disease model animals and cell lines transfected with mutant PLP1 genes, the exact pathogenetic mechanism of PMD has not previously been clarif...

The purpose of this article is to present contemporary information on the clinical and molecular diagnosis and the treatment of Pelizaeus-Merzbacher's disease (PMD) and related leukodystrophies. Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum fro...

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestation...

Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system. [1] It is one of a group of gene-linked disorders known as the leukodystrophies, which are all characterised by myelin sheath abnormalities. This is due to a mutation in the gene that controls the production of a myelin protein called proteolipid protein 1 (PLP1). The exact type of PLP1 ...

BACKGROUND AND PURPOSE Pelizaeus-Merzbacher's disease (PMD) is caused by mutations in the proteolipid protein (PLP) gene. Recent studies have shown that an increased PLP dosage, resulting from total duplication of the PLP gene, invariably causes the classic form of PMD. The purpose of this study was to compare the MR findings of PMD attributable to PLP duplication with those of PMD arising from...