Introduction of a new standardized assessment score of spine morphology in osteogenesis imperfecta.

PURPOSE: Osteogenesis imperfecta (OI) is a rare hereditary disease leading to multiple bone deformities and fractures. In the absence of causal therapy, a symptomatic approach is based on treatment with bisphosphonates and physiotherapy. The clinical and radiological manifestations vary. Therefore, standardization and quantification for an objective comparison, especially during therapy, are required. In this paper, radiological changes of the spine are quantified according to their clinical relevance to define a scoring system that transfers the morphological changes into a single value representing the severity of the disease. MATERIALS AND METHODS: 268 lateral spine X-rays of 95 patients with OI (median age 5.6 years) were assessed. The findings were classified based on their clinical relevance. RESULTS: The three criteria, vertebral compression, thoracolumbar kyphosis and deformity type, were quantified in a new grading system. Based on this, a "severity classification" (1 to 5) was defined with implications for diagnostics and treatment. A mathematical formula that takes into account the three criteria and their correlations to clinical relevance, resulting in a "severity score", was developed. CONCLUSION: "Severity classification" and "severity score" introduce a new concept for a standardized evaluation of spine X-rays in patients with OI. For both scientific and routine purposes, it provides the user with a simple and easy-to-handle tool for assessing and comparing different stages of severity prior to and during therapy with detailed accuracy.

[Occlusion of the left portal vein in newborns]. / Der linksseitige Pfortaderastverschluss des Neugeborenen.

PURPOSE: The occlusion of the left portal vein in newborn infants is shown and discussed in 14 cases. MATERIALS AND METHODS: The occlusion of the left portal vein in ten male and in four female newborn infants was diagnosed using ultrasound. Only one of the newborn infants was treated with an umbilical vessel catheter. In one case the occlusion of the left portal vein was suspected in an MRI. In the remaining 12 patients, the diagnosis was an incidental finding. RESULTS: Real-time ultrasound showed a hyperechogenic left portal vein without receiving a signal in duplex sonography in thirteen patients. A partly obstructive thrombus was only seen in one patient. Seven patients had enlarged and increased liver arteries already during the primary examination. Recanalization was achieved in two patients who received anticoagulative treatment and in one patient spontaneously. In the other eleven patients the liver arteries increased in caliber and number. DISCUSSION: The origin of the occlusion of the left portal vein is based on the adjustment to the postnatal hemodynamic situation in the umbilical recess. So far there is no evidence of the development of a permanent defect. For this reason and because of the possibility of spontaneous recanalization, treatment with anticoagulative drugs is hardly questioned. CONCLUSION: Occlusion of the left portal vein is mostly an incidental finding. It may appear without catheterizing the umbilical vessel and might be a reason for the "idiopathic lack" of the left portal vein.