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Brain involvement in Salla disease
Vise andre og tillknytning
1999 (engelsk)Inngår i: American Journal of Neuroradiology, ISSN 0195-6108, E-ISSN 1936-959X, Vol. 20, nr 3, s. 433-43Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

BACKGROUND AND PURPOSE: Our purpose was to document the nature and progression of brain abnormalities in Salla disease, a lysosomal storage disorder, with MR imaging. METHODS: Fifteen patients aged 1 month to 43 years underwent 26 brain MR examinations. In 10 examinations, signal intensity was measured and compared with that of healthy volunteers of comparable ages. RESULTS: MR images of a 1-month-old asymptomatic child showed no pathology. In all other patients, abnormal signal intensity was found: on T2-weighted images, the cerebral white matter had a higher signal intensity than the gray matter, except in the internal capsules. In six patients, the white matter was homogeneous on all images. In four patients, the periventricular white matter showed a somewhat lower signal intensity; in five patients, a higher signal intensity. In the peripheral cerebral white matter, the measured signal intensity remained at a high level throughout life. No abnormalities were seen in the cerebellar white matter. Atrophic changes, if present, were relatively mild but were found even in the cerebellum and brain stem. The corpus callosum was always thin. CONCLUSION: In Salla disease, the cerebral myelination process is defective. In some patients, a centrifugally progressive destructive process is also seen in the cerebral white matter. Better myelination in seen in patients with milder clinical symptoms.

sted, utgiver, år, opplag, sider
1999. Vol. 20, nr 3, s. 433-43
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Identifikatorer
URN: urn:nbn:se:uu:diva-56896PubMedID: 10219409OAI: oai:DiVA.org:uu-56896DiVA, id: diva2:84805
Tilgjengelig fra: 2008-10-17 Laget: 2008-10-17 Sist oppdatert: 2017-12-04bibliografisk kontrollert

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