Sallasygdom hos danske börn. De to förste tilfælde af Sallasygdom hos danske börn
Sammanfattning
Salla disease is a neurodegenerative lysosomal storage disorder. The mode of inheritance is autosomal recessive. The major symptoms are psychomotor retardation and ataxia. Repeated 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 screening test for lysosomal storage disorders does not reveal this, and the disease may be underdiagnosed. This article describes the first two cases of Salla disease in Denmark.