Extremity manifestations and surgical treatment for nasu hakola disease

Abstract

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.

Figure 1

(a) Lateral radiographs of bilateral ankles showed multiple lytic lesions with sclerotic rims in both talus. (b) Lateral radiographs of bilateral ankles showed multiple lytic lesions with sclerotic rims in both talus.

Figure 2

Fat containing cystic lesions surrounded by smooth, thick rims with septations in both talus have been shown on MRI.

Figure 3

(a) After the procedure containing curettage and autologous grafting have been done to both talus. (b) As the first step of the procedure curettage has been done to both talus.

Figure 4

Bilateral calcifications in the basal ganglia and white matter signal changes on MRI.