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Background: The safety of gadolinium-based contrast agents is a hot topic in radiology. Purpose: To evaluate the safety profile of gadobutrol during routine use. Material and Methods: Prospective, non-interventional study in 80 centers in Germany. The primary outcome was the number of adverse drug reactions (ADR) following gadobutrol administration. Results: A total of 3710 patients were included in the analysis, including 404 children (10.9%). A total of 6026 magnetic resonance imaging examinations of organs/organ systems and 872 magnetic resonance angiography examinations were performed. A total of 22 (0.59%) patients experienced at least one ADR. Nausea and vomiting were the most frequent ADRs, experienced by nine (0.24%) and three (0.08%) patients, respectively. One serious ADR was recorded (anaphylactoid reaction). No deaths were reported. Conclusion: This non-interventional study in 3710 patients confirmed gadobutrol as a safe and reliable contrast agent in adults and children. [ABSTRACT FROM AUTHOR]

Juvenile scleroderma is a rare connective tissue disease that involves the skin and subcutaneous tissue. Among all presentations of juvenile scleroderma, localized scleroderma (JLSc) is the most frequent, followed by systemic disease (JSSc) and eosinophilic fasciitis (EF). In posttransplantation chronic graft-versus-host disease (GvHD), scleroderma-like skin involvement can occur. Systemic forms of juvenile scleroderma and GvHD can affect the internal organs, such as the lungs, the gastrointestinal tract, the heart, and kidneys and cause disability and severe, sometimes lethal, complications. Here, the authors give an overview of different presentations of juvenile scleroderma. They report their experience with the different forms and presentations of scleroderma, diagnostic workups, treatment, and outcome of all forms of childhood scleroderma in the context of the existing literature. [ABSTRACT FROM PUBLISHER]

Tuberous sclerosis complex is an autosomal dominant disorder affecting primarily the central nervous system, skin, and kidney caused by mutations in the TSC1 and TSC2 genes. Diagnosis is established with the identification of various neurocutaneous symptoms and multiple organ system hamartomas. The authors report on a 9-year-old patient with episodes of vertigo and headache followed by full spontaneous recovery. There was no history of seizures, mental retardation, or other neurologic sequelae, and psychomotor development was normal. Magnetic resonance imaging revealed pial angiomatosis of the left cerebellum and calcifications in the left parieto-occipital lobe consistent with the diagnosis of Sturge-Weber syndrome. At the age of 13, multiple renal angiomyolipomas and a single hypomelanotic macule were found, and subsequent imaging revealed several cortical tuberi. The diagnosis was confirmed by sequence analysis, which identified a novel missense mutation p.Ala460Thr in exon 13 of the TSC2 gene. Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis. [ABSTRACT FROM AUTHOR]

Early spinal rigidity is a nonspecific feature reported in diseases such as neuromuscular and central movement disorders. We present a male patient with rigid spine muscular dystrophy caused by newly identified compound heterozygote mutations of the seleno-protein N gene and discuss this disease as a possible differential diagnosis for early-onset reduced spine mobility. Rigid spine muscular dystrophy is a rare myopathy presenting in childhood with a typical combination of stable or slowly progressive mild to moderate muscle weakness, limitation in flexion of the spine, and progressive restrictive ventilatory disorder. The clinical features of our patient include early-onset rigidity of his spine, scoliosis, mild muscular weakness predominantly of neck and trunk flexors, and restrictive ventilatory disorder. Biopsy of the biceps muscle revealed nonspecific myopathic changes, and molecular analysis confirmed the diagnosis of rigid spine muscular dystrophy. Thus, neuromuscular diseases such as muscular dystrophy must be considered in all patients presenting with early spinal rigidity, and genetic determination is a possible way to determine the diagnosis. [ABSTRACT FROM AUTHOR]