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 cogni...
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| Format: | Article |
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Wiley
2014-01-01
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| Series: | Case Reports in Orthopedics |
| Online Access: | http://dx.doi.org/10.1155/2014/458728 |
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| author | Murat Arıkan Ahmet Yıldırım Güray Togral Alp Burak Ekmekçi |
| author_facet | Murat Arıkan Ahmet Yıldırım Güray Togral Alp Burak Ekmekçi |
| author_sort | Murat Arıkan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-efae2f48bedd45529e3dec2fb1e792ea |
| institution | OA Journals |
| issn | 2090-6749 2090-6757 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Orthopedics |
| spelling | doaj-art-efae2f48bedd45529e3dec2fb1e792ea2025-08-20T02:22:05ZengWileyCase Reports in Orthopedics2090-67492090-67572014-01-01201410.1155/2014/458728458728Extremity Manifestations and Surgical Treatment for Nasu Hakola DiseaseMurat Arıkan0Ahmet Yıldırım1Güray Togral2Alp Burak Ekmekçi3Department of Orthopaedic Oncology and Trauma Surgery, Ankara Oncology State Hospital, Ankara, TurkeyDepartment of Orthopaedic Oncology and Trauma Surgery, Ankara Oncology State Hospital, Ankara, TurkeyDepartment of Orthopaedic Oncology and Trauma Surgery, Ankara Oncology State Hospital, Ankara, TurkeyDepartment of Orthopaedic and Trauma Surgery, Ankara Gazi Mustafa Kemal State Hospital, Ankara, TurkeyNasu-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.http://dx.doi.org/10.1155/2014/458728 |
| spellingShingle | Murat Arıkan Ahmet Yıldırım Güray Togral Alp Burak Ekmekçi Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease Case Reports in Orthopedics |
| title | Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease |
| title_full | Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease |
| title_fullStr | Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease |
| title_full_unstemmed | Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease |
| title_short | Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease |
| title_sort | extremity manifestations and surgical treatment for nasu hakola disease |
| url | http://dx.doi.org/10.1155/2014/458728 |
| work_keys_str_mv | AT muratarıkan extremitymanifestationsandsurgicaltreatmentfornasuhakoladisease AT ahmetyıldırım extremitymanifestationsandsurgicaltreatmentfornasuhakoladisease AT guraytogral extremitymanifestationsandsurgicaltreatmentfornasuhakoladisease AT alpburakekmekci extremitymanifestationsandsurgicaltreatmentfornasuhakoladisease |