Neurosurgical aspects of marble bone disease: treatment modalities and outcome
Abstract Background Marble bone disease or osteopetrosis is an extremely rare hereditary condition that causes abnormal bone density and fragility due to impaired osteoclastic action. This causes the body to produce an abnormal amount of bone that are evident in radiographic findings and cause probl...
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SpringerOpen
2025-02-01
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| Series: | Egyptian Journal of Neurosurgery |
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| Online Access: | https://doi.org/10.1186/s41984-025-00379-9 |
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| author | Mahmoud Mohammed Gamal Roshdy Elkhayat Hassan Mohammed Hassan |
| author_facet | Mahmoud Mohammed Gamal Roshdy Elkhayat Hassan Mohammed Hassan |
| author_sort | Mahmoud Mohammed Gamal |
| collection | DOAJ |
| description | Abstract Background Marble bone disease or osteopetrosis is an extremely rare hereditary condition that causes abnormal bone density and fragility due to impaired osteoclastic action. This causes the body to produce an abnormal amount of bone that are evident in radiographic findings and cause problems with the body systems, particularly the nervous system. Osteopetrosis has 3 types of genetic inheritance either malignant autosomal recessive (ARO) which occur in childhood, intermediate ARO which occur in adolescence, and benign autosomal dominant osteopetrosis which occur in adults. Complications from increased bone density like elevated intracranial pressure (ICP), compressing neural tissues, especially the cranial nerves (CNs), spinal cord, and brainstem, are common problems. Aim The aim of this study is to evaluate neurosurgical problems caused by osteopetrosis focusing on the effectiveness of different treatment modalities and their outcomes. Conclusion Marble bone disease or osteopetrosis is a rare hereditary disorder with multiple neurological impacts. Increased ICP and CNs compression are the most common. We studied 5 cases of adult osteopetrosis, 3 of them treated surgically. Two of the surgically treated cases had lumbo-peritonieal shunt, while the third case treated by optic nerve decompression. The remaining 2 cases were treated conservatively. The outcome of the surgically treated cases wasn’t good. |
| format | Article |
| id | doaj-art-b35e186a63f04688bdfbeb7280a30cef |
| institution | Kabale University |
| issn | 2520-8225 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Neurosurgery |
| spelling | doaj-art-b35e186a63f04688bdfbeb7280a30cef2025-02-09T12:25:21ZengSpringerOpenEgyptian Journal of Neurosurgery2520-82252025-02-0140111110.1186/s41984-025-00379-9Neurosurgical aspects of marble bone disease: treatment modalities and outcomeMahmoud Mohammed Gamal0Roshdy Elkhayat1Hassan Mohammed Hassan2Department of Neurosurgery, Faculty of Medicine, Assiut UniversityDepartment of Neurosurgery, Faculty of Medicine, Assiut UniversityDepartment of Neurosurgery, Faculty of Medicine, Assiut UniversityAbstract Background Marble bone disease or osteopetrosis is an extremely rare hereditary condition that causes abnormal bone density and fragility due to impaired osteoclastic action. This causes the body to produce an abnormal amount of bone that are evident in radiographic findings and cause problems with the body systems, particularly the nervous system. Osteopetrosis has 3 types of genetic inheritance either malignant autosomal recessive (ARO) which occur in childhood, intermediate ARO which occur in adolescence, and benign autosomal dominant osteopetrosis which occur in adults. Complications from increased bone density like elevated intracranial pressure (ICP), compressing neural tissues, especially the cranial nerves (CNs), spinal cord, and brainstem, are common problems. Aim The aim of this study is to evaluate neurosurgical problems caused by osteopetrosis focusing on the effectiveness of different treatment modalities and their outcomes. Conclusion Marble bone disease or osteopetrosis is a rare hereditary disorder with multiple neurological impacts. Increased ICP and CNs compression are the most common. We studied 5 cases of adult osteopetrosis, 3 of them treated surgically. Two of the surgically treated cases had lumbo-peritonieal shunt, while the third case treated by optic nerve decompression. The remaining 2 cases were treated conservatively. The outcome of the surgically treated cases wasn’t good.https://doi.org/10.1186/s41984-025-00379-9Dense sclerotic boneAutosomal dominant osteopetrosisMarble bone disease |
| spellingShingle | Mahmoud Mohammed Gamal Roshdy Elkhayat Hassan Mohammed Hassan Neurosurgical aspects of marble bone disease: treatment modalities and outcome Egyptian Journal of Neurosurgery Dense sclerotic bone Autosomal dominant osteopetrosis Marble bone disease |
| title | Neurosurgical aspects of marble bone disease: treatment modalities and outcome |
| title_full | Neurosurgical aspects of marble bone disease: treatment modalities and outcome |
| title_fullStr | Neurosurgical aspects of marble bone disease: treatment modalities and outcome |
| title_full_unstemmed | Neurosurgical aspects of marble bone disease: treatment modalities and outcome |
| title_short | Neurosurgical aspects of marble bone disease: treatment modalities and outcome |
| title_sort | neurosurgical aspects of marble bone disease treatment modalities and outcome |
| topic | Dense sclerotic bone Autosomal dominant osteopetrosis Marble bone disease |
| url | https://doi.org/10.1186/s41984-025-00379-9 |
| work_keys_str_mv | AT mahmoudmohammedgamal neurosurgicalaspectsofmarblebonediseasetreatmentmodalitiesandoutcome AT roshdyelkhayat neurosurgicalaspectsofmarblebonediseasetreatmentmodalitiesandoutcome AT hassanmohammedhassan neurosurgicalaspectsofmarblebonediseasetreatmentmodalitiesandoutcome |