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Computed tomography in Pelizaeus-Merzbacher disease


Statz, A; Boltshauser, Eugen; Schinzel, Albert; Spiess, H (1981). Computed tomography in Pelizaeus-Merzbacher disease. Neuroradiology, 22(2):103-105.

Abstract

CT findings in two related males suffering from the classical X-linked recessive form of Pelizaeus-Merzbacher disease (PMD) are described. CT revealed marked cerebellar atrophy and focal areas of demyelination of cerebral white matter in a 25-year-old patient. This agrees with known neuropathological changes. However, CT was normal in the 14-year-old nephew, although his neurological symptoms were nearly as severe as his uncle's. Judging from this observation and from the scant information in the literature it seems that CT in classical PMD is normal in the first decade and is therefore not helpful in confirming the diagnosis of PMD at an early stage.

Abstract

CT findings in two related males suffering from the classical X-linked recessive form of Pelizaeus-Merzbacher disease (PMD) are described. CT revealed marked cerebellar atrophy and focal areas of demyelination of cerebral white matter in a 25-year-old patient. This agrees with known neuropathological changes. However, CT was normal in the 14-year-old nephew, although his neurological symptoms were nearly as severe as his uncle's. Judging from this observation and from the scant information in the literature it seems that CT in classical PMD is normal in the first decade and is therefore not helpful in confirming the diagnosis of PMD at an early stage.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Radiology, Nuclear Medicine and Imaging
Health Sciences > Neurology (clinical)
Health Sciences > Cardiology and Cardiovascular Medicine
Uncontrolled Keywords:Cardiology and Cardiovascular Medicine, Neurology (clinical), Radiology, Nuclear Medicine and imaging, CT, Leucodystrophy, Atrophy -cerebellar
Language:English
Date:October 1981
Deposited On:09 Apr 2024 06:32
Last Modified:10 Apr 2024 20:00
Publisher:Springer
ISSN:0028-3940
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00344782
PubMed ID:7197763