Objective The study was conducted to evaluate the best possible imaging technique for neonatal cardiac imaging including optimal injection techniques, intravenous line placement, expected radiation dose, and need for sedation while performing the study on a 320 slice Toshiba® Aquilion ONE® scanner. Study results can be used to optimize imaging parameters for maximum clinical yield. We provide representative images of our cases.
View Article and Find Full Text PDFPurpose: The efficacy of magnetic resonance imaging (MRI) for evaluating sutures has not been well studied. CT with 3-dimensional reformats is currently the preferred modality for imaging the major cranial sutures. The role of MRI is primarily is for evaluating the brain for any concurrent malformations.
View Article and Find Full Text PDFIntestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered.
View Article and Find Full Text PDFObjective: To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia.
Methods: Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented.
Results: A 13-year-old male presented with chronic left knee pain.