Anorectal malformations (ARMs) are a heterogenous group of congenital anomalies involving the distal rectum and anus that are often associated with other anomalies. Neonates with ARMs may be identified at birth or prenatally and, upon delivery, receive a myriad of imaging tests to characterize the type of ARM and associated anomalies. Recent literature supports the use of transperineal ultrasound in the initial assessment of neonates with ARMs, with the Society of Pediatric Radiology recommending its use in the imaging algorithm for ARMs. Transperineal ultrasound, if adequately performed, allows evaluation of the location of the distal rectal pouch and the anatomy and location of any rectourogenital fistulas. In this educational poster, we review the clinical presentation and classification ARMs and discuss the role of transperineal ultrasound in the initial assessment of cases. We then describe common sonographic findings of ARMs on transperineal ultrasound using examples from our own institution. Our goal is to familiarize pediatric radiologists with this heterogenous group of congenital anomalies and the clinical utility of transperineal ultrasound in characterizing this pathology. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Martin Camden, Cassella Katharyn, Johnstone Lindsey, Leschied Jessica

Keywords: Gastrointestinal, Anorectal, Ultrasound

Scurvy (vitamin C deficiency) was largely considered to be historical until recent years. The current prevalence of scurvy in the United States is approximately 7.1% and is thought to be increasing due to growing awareness of neurodiverse populations. Neurodiverse individuals show patterns of thought or behavior that are different from those of most people, but are still considered within normal range of human behavior. Interchangeable terms include neurodivergent, neurodifferent, and neurominority. While these terms traditionally refer to individuals with autism spectrum disorder (ASD), they also include individuals with attention-deficit/hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), Trisomy 21, dyslexia, sensory disorders, and others. In the ASD population alone, the incidence increased from 1 in 150 children in 2000 to 1 in 36 children in 2020. Neurodiverse individuals are at risk for vitamin C deficiency as a result of a tendency towards extreme restricted diets. Clinically, vitamin C deficiency causes dermatologic symptoms (hyperkeratosis, corkscrew hair, poor wound healing), hemorrhagic symptoms (petechiae, ecchymoses, gingival bleeding), and skeletal symptoms (leg swelling/pain). It is largely a clinical diagnosis that can be supplemented or confirmed by laboratory, radiographic, and MRI investigations. This case review will highlight the typical presentation of scurvy with comments on the clinical presentation, associated neurodivergent behaviors contributing to the disease, and the radiographic and clinical diagnosis. In sum, vitamin C deficiency is becoming more prevalent in children that fall within the spectrum of neurodiversity and should be considered in the appropriate clinical context. Pediatricians and pediatric radiologists should be aware of the clinical emergence of scurvy, be able to recognize the imaging manifestations of the disease, and be sensitive to the unique needs of neurodiverse children. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Hatcher Lauren, Cassella Katharyn, Foust Alexandra, Johnstone Lindsey, Leschied Jessica

Keywords: Vitamin C deficiency, Neurodivergent, Neurodiverse

Megacystis microcolon hypoperistalsis syndrome (MMIHS) also known as Berdon syndrome is a rare genetic disorder with a poor prognosis characterized by hypoperistalsis of the bladder and bowel. When expediently diagnosed and managed, survival can be extended. The radiologist plays a role in the initial diagnosis and recommending further imaging based on the known constellation of findings in collaboration with the pediatric surgeon and pediatric urologist. The radiologist could be the first to appreciate characteristic findings and suggest the possibility of this syndrome. The purpose of this educational exhibit is to describe the imaging characteristics of Berdon syndrome from the fetal stage to early childhood with an emphasis on 1) main radiologic findings, 2) helpful imaging features to differentiate Berdon syndrome from other similar conditions, 3) appropriate imaging studies to assist in supporting the diagnosis, and 4) clinical findings, management, and outcome. We will review 9 cases and their corresponding imaging. Sources: Wymer KM, Anderson BB, Wilkens AA, Gundeti MS. Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. J Pediatr Surg. 2016;51(9):1565-1573. Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Seminars in Pediatric Surgery. 2005;14(1):58-63. Rolle U, O’Briain S, Pearl RH, Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy. Pediatr Surg Int. 2002;18(1):2-5. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Maria Anthony Rayer Dhilip Andrew, Snyder Elizabeth, Singh Sudha, Johnstone Lindsey, Sarma Asha, Krishnasarma Rekha

Keywords: Berdon, intestinal hypoperistalsis, malrotation