Sammanfattning
Salla disease is a neurodegenerative lysosomal storage disorder. The mode of inheritance is autosomal recessive. The major symptoms are psychomotor retardation and ataxia. Findings on MRI are hyperintensity of the subcortical white matter of the cerebrum and hypoplasia of the corpus callosum. Free sialic acid accumulates in the lysosomes and is excreted in excessive amounts in the urine. A routine screening test for lysosomal storage disorders does not reveal this, and the disease may be underdiagnosed. Salla disease should be considered amongst Danish patients.