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

B. Plecko; S. Stöckler-Ipsiroglu; S. Gruber; V. Mlynarik; E. Moser; J. Simbrunner; F. Ebner; G. Bernert; G. Harrer; A. Gal; D. Prayer

doi:10.1055/s-2003-41276

Neuropediatrics, Table of Contents

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. Plecko¹ , S. Stöckler-Ipsiroglu² , S. Gruber³ , V. Mlynarik³ , E. Moser³ , J. Simbrunner⁴ , F. Ebner⁴ , G. Bernert² , G. Harrer⁵ , A. Gal⁶ , D. Prayer⁷

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

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

Full Text

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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