Salla disease

Salla disease, also known as Finnish type sialuria, is a rare autosomal recessive disease that primarily affects the central nervous system. It is considered the mildest form of free sialic acid storage disorder.

Clinical presentation

Neurological symptoms related to this rare disease are usually seen in the first months of life. The first symptoms are muscular hypotonia, ataxia and delayed motor development. Nystagmus and epilepsy can also be seen. It eventually leads to significant intellectual disability. Patients may develop emphysema which is hypothesized to be due to abnormal inhibitory function of trypsin.

Pathology

Salla disease is caused by mutations in the SLC17A5 gene . Mutations in the same gene also lead to infantile sialic acid storage disease, the most severe form of free sialic acid storage disorder.

Radiographic features

MRI

Hypomyelination (including the U-fibers) with global cerebral volume loss is usually seen .

History and etymology

It was first described by Pertti Aula et al. in 1979 and named after Salla, a small municipality of Finland .

Treatment and prognosis

There is no specific treatment. It mainly consists of supportive care. There is only a mild reduction in life expectancy .