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Neuropediatrics 2003; 34(3): 127-136
DOI: 10.1055/s-2003-41276
Original Article

Georg Thieme Verlag Stuttgart · New York

Degree of Hypomyelination and Magnetic Resonance Spectroscopy Findings in Patients with Pelizaeus Merzbacher Phenotype

B. Plecko 1 , S. Stöckler-Ipsiroglu 2 , S. Gruber 3 , V. Mlynarik 3 , E. Moser 3 , J. Simbrunner 4 , F. Ebner 4 , G. Bernert 2 , G. Harrer 5 , A. Gal 6 , D. Prayer 7
  • 1Department of Paediatrics, University Hospital Graz, Graz, Austria
  • 2Department of Paediatrics, University Hospital Vienna, Vienna, Austria
  • 3Institute of Medical Physics, University Hospital Vienna, Vienna, Austria
  • 4Institute of Magnetic Resonance Imaging, Department of Radiology, University Hospital Graz, Graz, Austria
  • 5Department of Anaesthesiology, University Hospital Vienna, Vienna, Austria
  • 6Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany
  • 7Department of Neuroradiology, University Hospital Vienna, Vienna, Austria
Further Information

Publication History

Received: October 11, 2002

Accepted after Revision: April 28, 2003

Publication Date:
11 August 2003 (online)

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Abstract

As only 10 - 30 % of patients with a Pelizaeus Merzbacher disease (PMD) phenotype carry mutations of the proteolipid protein (PLP) gene, we were interested if the degree and time-dependent progression of abnormal MRI and MRS findings would discriminate patients with mutations of the PLP gene (Pelizaeus Merzbacher disease, PMD) from patients without a defect of the PLP gene (Pelizaeus Merzbacher-like disease, PMLD). For a standardised intraindividual follow-up and for comparison of the degree of hypomyelination, we have applied a newly developed semiquantitative myelination score on a total of 18 MRI series of 4 PMD and 4 PMLD patients. We found severe hypomyelination (< 50 % of normal) in 2 PMD and in 2 PMLD patients, moderate hypomyelination (< 75 % of normal) in 2 PMD and mild hypomyelination (> 75 % of normal) in 2 PMLD patients. Our score revealed a clear correlation between the degree of hypomyelination and the severity of clinical handicap in PMD but not in PMLD patients. MRS showed heterogeneous cerebral metabolite patterns in both patient groups and seems to reflect a mixture of unspecific changes due to primary hypomyelination and secondary gliosis and demyelination. Neither by MRI nor by MRS were patterns found that would allow differentiation between PMD and PMLD patients.

Key words

Myelination - myelination score - dysmyelination - proteolipid protein - PLP - magnetic resonance imaging - MRI

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M.D. Sylvia Stöckler-Ipsiroglu

Department of Pediatrics, University of Vienna

Währinger Gürtel 18 - 20

1090 Vienna

Austria

Email: stoeckler@metabolic-screening.at

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