Sammanfattning
BACKGROUND : Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola syndrome) (PLO-SL) is an unusual cause of early dementia in which the decline in cognitive function is associated with multiple bone cysts, in particular in hands and feet. About 165 cases of this autosomal recessive hereditary disease have been reported worldwide, mostly from Finland and Japan.
MATERIAL AND METHODS : In this article, case histories of PLO-SL are presented of two brothers who were born to consanguineous parents on an island outside the western coast of Norway. They are the 3rd and 4th patients in Norway described with this disorder.
RESULTS : One of the brothers was diagnosed retrospectively and the diagnosis was not made in the other even when he had fractures without entirely adequate trauma.
INTERPRETATION : It is suspected that the disease is underdiagnosed. For this reason, all patients with polycystic lesions in the skeleton should be evaluated for their mental state and all patients with an etiologically unclear dementia before the age of 50 should be investigated with x-rays of hands and/or feet.