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
Fibrolipomatous hamartoma (FLH) of the median nerve, also known as perineural lipoma or lipomatous hamartoma, is a rare, slow-growing, benign neoplasm that arises from proliferation of fibrofatty tissue that infiltrates epineural and perineural elements and results in thickening of the axonal bundles. It is thought to be congenital, which is why many patients present in childhood, typically with painless enlargement of the distal forearm or volar wrist. Some patients may present with carpal tunnel syndrome because of median nerve compression. Macrodactyly of the involved region has been reported in rare cases. MRI is considered the preferred modality for diagnosis of FLH; however, ultrasound, computed tomography, and rarely, radiography also play important roles in diagnosis. Imaging allows for accurate differentiation of FLH from other disease processes such as peripheral nerve sheath tumor (PNST) and lipoblastoma. In symptomatic patients, treatment of FLH includes carpal tunnel decompression, fibrofatty sheath debulking, and microsurgical dissection of the neural elements. In asymptomatic patients, observation may be appropriate. This case series aims to describe multi-modality imaging manifestations of FLH presenting in children and highlight imaging features that are key to achieving a definitive diagnosis, sparing the need for surgical exploration and biopsy. Case 1 11-year-old patient found to have a nontender, palpable mass in the right wrist. Radiographs revealed no abnormalities. Ultrasound of the palpable abnormality demonstrated an ovoid echogenic mass with internal hypoechoic fascicles contiguous with the median nerve, consistent with fibrolipomatous hamartoma of the median nerve. Patient has remained asymptomatic since diagnosis. Case 2 12-year-old patient with numbness and tingling in the median nerve distribution. Ultrasound demonstrated an indeterminate heterogenous lesion in the wrist. MRI revealed a collection of enlarged cylindrical fascicles surrounded by fat along the course of the median nerve. The patient underwent carpal tunnel release with symptomatic relief. The patient developed enlargement of her thumb and soft tissue hypertrophy along the ulnar aspect from the thumb tip down into the webspace. Most recent MRI demonstrated stability of hamartoma; however, the patient has developed recurrent carpal tunnel syndrome and is scheduled to undergo neurolysis of the median nerve and debulking of the thumb tumor. Read More
Meeting name: SPR 2025 Annual Meeting , 2025
Authors: Rullan Varela Valeria, Woodruff Ronald, Johnstone Lindsey, Sarma Asha, Leschied Jessica
Keywords: Musculoskeletal, Wrist Ultrasound, Neurosonogram
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
The majority of children’s hospitals reside in urban settings, and the most common animal related injuries seen in these areas are induced by cats or dogs. However, urban medical centers serve patients from large surrounding rural areas where a more diverse array of animal or agriculture related injuries can occur. Although an altercation with an angry horse, pig, or cow could result in severe trauma in adults, animal related injuries pose an even greater danger to children given their smaller stature and growing bodies. The natural curiosity of children also increases the risk of severe injury when living or playing around industrial agricultural equipment. Even partaking in outdoor sports or leisure activities confers risk for exposure to a variety of injury mechanisms. Depending on the specifics of the surrounding ecosystem, radiologists may also care for patients exposed to envenomation from snakes, scorpions, spiders, and various other insects, resulting in local or systemic complications. When incorporating a mechanism of injury, radiologists may anticipate complications of exposure to these animals or insects and can recommend further imaging evaluation. For example, in addition to characterizing imaging findings, such as local necrosis, from a brown recluse bite injury in a patient transferred from an outlying hospital, the radiologist would anticipate the urgency with which to assess for more systemic complications such as angioedema, rhabdomyolysis, or internal hemorrhage due to disseminated intravascular coagulopathy. To best serve our patients, pediatric radiologists should exhibit familiarity with possible mechanisms of injury related to wildlife, their various imaging manifestations, and potential complications in order to help guide clinicians in managing these potentially devastating injuries. This educational exhibit aims to demonstrate key findings of such pediatric injuries through a series of cases. Read More
Meeting name: SPR 2025 Annual Meeting , 2025
Authors: Jordan Kathryn, Killerby Marie, Patel Arjun, Cassella Katharyn, Greene Elton, Johnstone Lindsey, Leschied Jessica
Keywords: Pediatric Trauma, Image Findings, Emergency/Acute