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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 20:433-443 (3 1999)
© 1999 American Society of Neuroradiology

ARTICLE

Brain Involvement in Salla Disease

Pirkko Sonninen^,a, Taina Autti^a, Tarja Varho^a, Mirja Hämäläinen^a and Raili Raininko^a

^a From the Department of Diagnostic Radiology, University Hospital of Turku, Finland (P.S.); the Department of Radiology, University Central Hospital of Helsinki, Finland (T.A.); the Department of Medical Genetics, University of Turku, Finland (T.V.); the Department of Child Neurology, University Hospital of Helsinki, Finland (M.H.); and the Department of Diagnostic Radiology, University Hospital, Uppsala, Sweden (R.R.).

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.

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