Nasu-Hakola disease, which is also known as
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (
PLOSL), is a rare and mortal human
genetic disorder (Verloes et al., (1997) and Bianchin et al., (2004)). Nasu-Hakola is a progressive disease characterized by early onset cognitive
dementia and
bone cysts (both evident by the third decade). The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan (Montalbetti et al., (2004)). In the literature less than 200 cases are reported and only a few of them are about the surgical treatment for the extremity (Madry et al., (2007)). Most patients die by their fourth or fifth decade because of neurologic problems. Surgeons generally prefer
conservative treatment modalities in the treatment of cystic lesions of the bone in this syndrome. In this case report, we presented a 42-year-old male with
Nasu-Hakola disease having bilateral painful talar lipomembranous cystic lesions treated with
curettage and iliac
bone grafting. He is in the 3rd year of his followup after surgery and he has not any extremity complaints, but his neurological problems sustain. Our aim in this study is to show the beneficial aspect of surgical intervention in the cystic lesions of
Nasu Hakola disease in the skeleton to obtain the patient a painless joint although surgery is rarely performed in this systemic and progressive disease.