Craniospinal Abnormalities and Neurologic Complications of Osteogenesis Imperfecta: Imaging Overview

Academic Unit of Radiology, C Floor, and Department of Radiology, Royal Hallamshire Hospital, University of Sheffield, Glossop Rd, Sheffield, South Yorkshire, S10 2JF, England.
Radiographics (Impact Factor: 2.6). 11/2012; 32(7):2101-2112. DOI: 10.1148/rg.327125716
Source: PubMed


Osteogenesis imperfecta is a rare genetic disorder that leads to progressive skeletal deformities due to deficits in type I collagen, the main pathophysiologic effect of the disease. In addition, it may lead to a wide range of associated neurologic abnormalities: The central nervous system is usually involved because of softening of bone at the base of the skull, with resultant upward migration of the upper cervical spine and odontoid process into the skull base. Upward migration of the spine may cause compression of the brainstem, mechanical impingement of the spinal canal with restriction of cerebrospinal fluid circulation, and impingement of the cranial nerves. Osteogenesis imperfecta also may directly involve neurovascular structures, leading to cavernous fistulas of the carotid artery, dissection of the cervical arteries, and cerebral aneurysms. The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia. The imaging features of the disorder vary as widely as its clinical manifestations, depending on the severity of disease. Severe forms accompanied by debilitating skeletal fractures and progressive neurologic impairments may lead to perinatal death, whereas milder asymptomatic forms might cause only a modest reduction in life span. The most important advance in medical therapy for osteogenesis imperfecta has been the introduction of bisphosphonate therapy to slow the resorption of bone in patients with moderate to severe forms of the disease (ie, type III or IV). In some patients, neurosurgery may be necessary to correct the effects of severe basilar invagination by the odontoid process. © RSNA, 2012.

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    ABSTRACT: Osteogenesis imperfecta is a hereditary disorder of the connective tissue caused by qualitative or quantitative abnormalities involving type I collagen, with varied phenotypic presentations. The diagnosis should be considered in any child with recurrent fractures from minimal trauma and the focus of treatment should be multidisciplinary in order to oversee early care and minimize complications. Osteomalacia is often neglected especially in its early stages because of the nonspecific nature of symptoms such as vague bone pain and muscle weakness. Symptoms include chronic bone and muscle pain, weakness, fatigue, difficulty in walking, and a high risk of fractures due to bone fragility. The most characteristic laboratory findings are a lower serum calcium level, a decrease in urinary calcium levels, hypophosphatemia, and increased levels of alkaline phosphatase. Vitamin D is effective in the treatment of nutritional osteomalacia, or for malabsorption. Tumor-induced osteomalacia is treated with a phosphate supplement, along with vitamin D, until the tumor has been identified and excised. Paget's disease of bone is a chronic skeletal disease characterized by increased osteoclastic activity that leads to increased bone reabsorption. It is usually asymptomatic and discovered incidentally. The main clinical manifestations are bone pain, fractures, skeletal deformities, and secondary arthritis. The diagnosis can be made when high serum alkaline phosphatase activity is found, or by routine X-ray examination. The objective of treatment is to relieve pain, restore normal bone metabolism, decrease bone vascularization, and prevent future complications. © 2014 Springer Science+Business Media New York. All rights are reserved.
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    ABSTRACT: Bone is a dynamic organ of the endoskeleton, playing an important role in structural integrity, mineral reservoirs, blood production, coagulation, and immunity. Metabolic bone disease encompasses a broad spectrum of inherited and acquired disorders that disrupt the normal homeostasis of bone formation and resorption. For patients affected by these processes, radiologic imaging plays a central role in diagnosis, monitoring treatment, and risk stratification. Radiologists should be familiar with the diseases, intimately aware of the imaging findings, and possessive of multimodality expertise to wisely guide the best practice of medicine. The purpose of this paper is to review the imaging features and characteristics of the most common types of metabolic bone disease with highlights of clinically relevant information so that readers can better generate appropriate differential diagnoses and recommendations. For this review, a thorough literature search for the most up-to-date information was performed on several key types of metabolic bone disease: osteoporosis, osteomalacia, rickets, scurvy, renal osteodystrophy, hyperparathyroidism, Paget’s disease, osteogenesis imperfecta, acromegaly, and osteopetrosis. Although they all affect the bone, these diseases have both shared characteristic features that can be discerned through imaging.
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