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Background <p>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.</p> Aim <p>The aim of this study is to evaluate neurosurgical problems caused by osteopetrosis focusing on the effectiveness of different treatment modalities and their outcomes.</p> Conclusion <p>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.</p>

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Neurosurgical aspects of marble bone disease: treatment modalities and outcome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月6日

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  • Mahmoud Mohammed Gamal,
  • Roshdy Elkhayat,
  • Hassan Mohammed Hassan

摘要

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.