Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management. Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. All patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes. Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications

Melatonin as an alternative sedation method during magnetic resonance imaging in preschool children with musculoskeletal problems

Magnetic resonance imaging (MRI) in preschool children is often challenging due to excessive motion artifacts. Sedation or general anesthesia (GA) is commonly used to prevent children from moving in the MRI scanner, with increased risk for cardiopulmonary complications and requirement for skilled personnel. Herein, we investigated whether oral melatonin, a natural hormone implicated in circadian rhythm regulation, could be used as an alternative sedation method prior to the MRI in preschool children with musculoskeletal problems. Fifteen children with suspected juvenile idiopathic arthritis underwent a total of 16 MRI examinations following administration of 10 mg of oral melatonin ; satisfactory images were obtained in all but one case, with no adverse events. CONCLUSION: The use of melatonin before the musculoskeletal MRI in preschool children is an effective, safe, and inexpensive alternative to standard sedation and general anesthesia in preventing motion artifacts. What is Known: • Magnetic resonance imaging (MRI) is a well-recognized diagnostic method to visualize synovial inflammation and changes of cartilage and bone in juvenile idiopathic arthritis. • MRI examination requires sedation or general anesthesia to ensure immobility in children who are uncooperative. What is New: • Melatonin without sleep deprivation is efficacious and safe alternative to conventional sedation and general anesthesia before the musculoskeletal contrast-enhanced MRI in preschool children with JIA with timely insertion of intravenous cannula