Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease

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. 1. Introduction Polycystic lipomembranous osteodysplasia with sclerosing Leukoencephalopathy (PLOSL), which is also named as Nasu-Hakola disease, is a rare mortal hereditary systemic disorder. The disease is characterized by progressive presenile dementia associated with multiple cyst-like bone lesions, complicated with pathologic fractures [1, 2]. Despite of the disease worldwide distribution, many cases were reported from Finland and Japan [3]. A profound dementia arises at 3rd and 4th decade and death occurs by the age 50 [1–6]. Traditionally clinical presentation of the disease contains 4 different stages: (1) latent, (2) osseous, (3) early neurological, and (4) late neurological. The symptoms begin at the osseous stage during the 3rd decade [1–6]. 2. Case Report A 42-year-old man was referred to our clinic with a history of feet pain, gait strain, and dementia for three years. The patient had progressive neurological complaints containing ataxia and amnesia. He had continuous pain in both ankles and memory disturbances. The neuroradiologic findings commonly encountered are mild to moderate cortical atrophy, bilateral calcifications in the basal