Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not unique to HPP, such as shortening, bowing and angulation of the long bones, and slender, poorly ossified ribs and metaphyseal lucencies. Conversely, absent ossification of whole bones is characteristic of severe lethal HPP and is associated with very few other conditions. Certain features may help distinguish HPP from other skeletal dysplasias, such as sites of angulation of long bones, patterns of hypomineralization, and metaphyseal characteristics. In utero recognition of HPP allows for the assembly and preparation of a multidisciplinary care team before delivery and provides additional time to devise treatment strategies

Monitoring Cystic Fibrosis Lung Disease by Computed Tomography: Radiation Risk in Perspective

Computed tomography (CT) is a sensitive technique to monitor structural changes related to cystic fibrosis (CF) lung disease. It detects structural pulmonary abnormalities such as bronchiectasis and trapped air, at an early stage, before they become apparent with other diagnostic tests. Clinical decisions may be influenced by knowledge of these abnormalities. CT imaging, however, comes with risk related to ionizing radiation exposure. The aim of this review is to discuss the risk of routine CT imaging in patients with CF, using current models of radiation-induced cancer, and to put this risk in perspective with other medical and nonmedical risks. The magnitude of the risk is a complex, controversial matter. Risk analyses have largely been based on a linear no-threshold model, and excess relative and excess absolute risk estimates have been derived mainly from atomic bomb survivors. The estimates have large confidence intervals. Our risk estimates are in concordance with previously reported estimates. A large proportion of radiation to which humans are exposed is from natural background sources and varies widely depending on geographical location. The risk differences due to variation in background radiation can be larger than the risks associated with CF lung disease monitoring by CT. We conclude that the risk related to routine usage of CT in clinical care is small. In addition, a life-limiting disease, such as CF, lowers the risk of radiation-induced cancer. Nonetheless, the use of CT should always be justified and the radiation dose should be kept as low as reasonably achievable