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Comparative Study
. 1999 Mar;20(3):433-43.

Brain involvement in Salla disease

P Sonninen  1 , T Autti, T Varho, M Hämäläinen, R Raininko
Affiliations
Comparative Study

Brain involvement in Salla disease

P Sonninen et al. AJNR Am J Neuroradiol. 1999 Mar.

Abstract

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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Figures

<sc>fig</sc> 1.
fig 1.
Case 8: 7-year-old boy with clinically mild type of Salla disease. A–C, At the age of 27 months the corpus callosum is very thin. T2-weighted (2500/90) spin-echo MR images show high signal intensity in the cerebral white matter (A) and somewhat high signal intensity in the internal capsules (B) as a sign of hypomyelination. Myelin was better seen in the internal capsules on T1-weighted image (C). D and E, At the age of 7 years, T2-weighted images show myelination of the internal capsules had progressed (D), and myelin was also seen above the atria (E).
<sc>fig</sc> 2.
fig 2.
Case 6: 6-year-old girl with conventional type of Salla disease. MR image shows homogeneous high signal intensity in the cerebral white matter, including the internal capsules. fig 3. Case 11: 15-year-old boy with clinically severe type of Salla disease. MR image shows extremely high signal intensity around the lateral ventricles and moderate atrophic changes. fig 4. Case 13: 20-year-old man with clinically severe type of Salla disease. MR image shows very high signal intensity in the entire cerebral white matter.
<sc>fig</sc> 5.
fig 5.
A and B, Ratios between signal intensity in the deep nuclei and in the peripheral cerebral white matter with 1.5-T equipment (A) and with 1.0-T equipment (B). Solid circles indicate patients; open circles, control subjects
<sc>fig</sc> 6.
fig 6.
A and B, Signal intensity in the deep nuclei and peripheral cerebral white matter expressed as a percentage of the intensity of CSF signal in the tips of the frontal horns. Examinations with 1.5-T equipment (A) and with 1.0-T equipment (B). The number of subjects measured varies in the figures, because in two patients and in four control subjects the frontal horns were very small or the sections containing the structures of interest were not optimally located in the sections. Solid circles indicate patients; open circles, control subjects
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References

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