Osteopetrosis (from the Greek “osteo”: bone; “petrosis”: stone) is a clinically and genetically heterogeneous group of rare diseases of the skeleton, sharing the same main characteristic of an abnormally increased bone density. Dense bones in radiological studies are considered the hallmark of these diseases, and the reason for the common term used: “Marble bone disease”. Interestingly, a radiologist, Dr. Albers-Schonberg, described this disease for the first time in Germany in 1904. Indeed, radiology has a key role in the clinical diagnosis of osteopetrosis and is fundamental in assessing the disease severity and complications, as well as in follow-up controls and the evaluation of the response to treatment. Osteopetrosis includes a broad spectrum of genetic mutations with very different clinical symptoms, age onset, and prognosis (from mild to severe). This diversity translates into different imaging patterns related to specific mutations, and different disease severity. The main recognized types of osteopetrosis are the infantile malignant forms with autosomal recessive transmission (ARO—including the rarer X-linked recessive form); the intermediate autosomal recessive form (IAO); and the autosomal dominant ones ADO, type I, and type II, the latter being called ‘Albers-Schonberg’ disease. Imaging features may change among those distinct types with different patterns, severities, skeletal segment involvement, and speeds of progression. There are several classical and well-recognized radiological features related to osteopetrosis: increased bone density (all types with different degrees of severity assuming a ‘Marble Bone Appearance’ especially in the ARO type), different metaphyseal alterations/enlargement including the so-called ‘Erlenmeyer flask deformity’ (particularly of femoral bones, more frequent in ADO type 2, and less frequent in ARO and IAO), ‘bone in bone’ appearance (more frequent in ADO type 2, less frequent in ARO and IAO), and ‘rugger-jersey spine’ appearance (typical of ADO type 2). After conducting an overview of the epidemiological and clinical characteristic of the disease, this review article aims at summarizing the main radiological features found in different forms of osteopetrosis together with their inheritance pattern.
Objective Evaluating humeral head bone profile inside biceps reflection pulley area in order to identify possible anatomical variants and any causes predisposing to tendon’s instability of the long head of the biceps. Materials and methods This retrospective study analyzed 326 patients, 183 males and 143 females (age 15–88 years; average 51.5 years), who underwent MRI examination between 2013 and 2019. Biceps pulley reflection area morphology of 192 right shoulders and 134 left shoulders was assessed analyzing 309 MRI and 17 MR arthrography (MRA) shoulder exams. We investigated age and gender and the frequency of morphological variants among the patient groups. Results Four possible morphological variants were identified: 95 with convex shape; 127 with flat shape; 77 with spiculated shape; and 12 with mixed morphology. Fifteen humeral bone profiles were not classifiable. Conclusions MRI was effective in defining humeral head anatomic variants inside the biceps pulley reflection area. The most frequent variants were flat or convex types.
Spinal epidural lipomatosis is defined by an excessive amount of epidural fat in the spinal canal, usually in the lumbosacral tract: a well-known cause of lumbar pain and spinal stenosis with a possible wide range of neurological symptoms. Recent research data reveal that, nowadays, obesity has become the main cause of spinal epidural lipomatosis. Moreover, this condition was recently recognized as a previously unknown manifestation of metabolic syndrome. Radiological studies (CT and MRI) are the only tools that are able to diagnose the disease non-invasively. Indeed, radiologists play a key role in disease recognition, with subsequent possible implications on patients’ systemic health assessments. Despite its clinical importance, the condition is still underreported and neglected. The current literature review summarizes all the main etiologies of spinal epidural lipomatosis, particularly regarding its linkage with metabolic syndrome. An overview of disease characteristics from diagnosis to treatment strategies is also provided.
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