W Mustapha Wan Irfan

Final Pr. ID: Poster #: CR-026

Horseshoe lung is a rare congenital anomaly and is mostly accompanied by scimitar syndrome. We reported a 3 months old baby girl was initially referred from the district hospital for ventilator support for severe congenital pneumonia and dextrocardia with features suggestive of elevated pulmonary artery pressure. She was born via emergency caesar for fetal distress with moderate meconium-stained liquor. Apgar's score was 5 in 1 minute and 9 in 5 minutes. She initially required non-invasive ventilation support and was able to wean to nasal prong on day 2 of life subsequently was intubated for worsening respiratory distress on day 8 of life and was transferred to our hospital. In our hospital, she was treated for nosocomial pneumonia and ventilated for 2 days and subsequently able to extubate to nasal prong. She completed a total of 2 courses of antibiotics within 2 weeks of life. Clinically patient is not dysmorphic but in respiratory distress with sub and intercostal recession. No chest deformity. Auscultation reduced air entry over the right lung, and no murmur was heard. Echo showed situs solitus with mesocardia, dominant RA/RV, AV/VA concordant, small PFO with intact IVS, tricuspid regurgitation 3 mmHg, dilated pulmonary artery and PDA 1.2 mm bidirectional predominantly right to left. Chest radiograph showed opacified right chest, dextrocardia and enlarged left hemithorax. CT Thorax showed a tiny right pulmonary artery, the right pulmonary vein is not clear, probably draining into the IVC- RA junction and a hypoplastic right lung suggestive of scimitar syndrome with horseshoe lung complicated with pulmonary hypertension. She was kept on nasal prong oxygen since extubated because of elevated pulmonary artery pressure and respiratory distress and was given sildenafil. Horseshoe lung is rare, and most of the reported cases share the same spectrum of cardiovascular anomalies identified in scimitar syndrome, and it can be confirmed by CT and angiography. Read More

Authors:  W Mustapha Wan Irfan

Keywords:  Scimitar syndrome, horsehoe lung, pulmonary hypertension

Infante Ignacio,  Mackintosh Cecilia,  Anoni Clara,  Otero Eduardo,  Galeano Monica

Final Pr. ID: Poster #: EDU-012 (S)

The objective of this review is to summarize the earliest radiological findings of AMC (arthrogryposis multiplex congenital), detail the most frequently affected joints, identify associated syndromes, and expose the radiological findings in children whose therapy was delayed. Read More

Authors:  Infante Ignacio , Mackintosh Cecilia , Anoni Clara , Otero Eduardo , Galeano Monica

Keywords:  joint contractures, associated syndromes, pediatric radiology

Quinlan Kia,  Payne Sydney,  Primack Ilana,  Hilmes Melissa,  Singh Sudha

Final Pr. ID: Poster #: CR-017

1. Berdon syndrome, or Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), is a rare condition with heavy morbidity and high mortality. Therefore, recognition and early diagnosis of this entity are critically important for improved patient management and family counselling. Awareness of this rare disease is a prerequisite to early recognition, whether antenatally or in the neonatal period.

2. We present two cases of Berdon syndrome at our institution. Berdon syndrome is a congenital and generally fatal disease characterized by hypoperistalsis of the gastrointestinal system, non-obstructive bladder distension, and microcolon. As of 2018, only 450 cases have been reported in literature since first described in 1976.

3. We present a logical diagnostic approach to this entity from the starting point of megacystis. Starting at megacystis helps narrow the differential diagnoses, with Eagle-Barret syndrome and posterior urethral valves being the main differential considerations. Read More

Authors:  Quinlan Kia , Payne Sydney , Primack Ilana , Hilmes Melissa , Singh Sudha

Keywords:  Megacystis, Berdon Syndrome, Prune-Belly Syndrome

Mejia Leon Andres,  Pérez Hidalgo Juan,  Roa Benavides Jose,  Acosta Izquierdo Laura

Final Pr. ID: Poster #: EDU-089

Caudal Regression Syndrome (CRS) is a rare and severe form of abnormal sacral development, with an estimated frequency in the general population ranging from 0.005% to 0.01%. It exhibits a slightly higher incidence among children born to diabetic mothers. The majority of CRS cases are sporadic, and the clinical presentation varies depending on the extent of the abnormalities. CRS has been associated with other anomalies, including Currarino syndrome, VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, limb abnormalities) association, caudal duplication syndrome, and more.

As radiologists, understanding the key features of Caudal Regression Syndrome and its associated syndromes is essential. This knowledge can aid clinicians in defining the extent of the disease and facilitating early and targeted treatment.

The primary goal of this educational exhibit is to provide a comprehensive review of CRS and its associated syndromes. Using clinical cases and various imaging modalities, we aim to enhance your understanding of these conditions. Read More

Authors:  Mejia Leon Andres , Pérez Hidalgo Juan , Roa Benavides Jose , Acosta Izquierdo Laura

Keywords:  Caudal regression syndrome, Currarino syndrome, Caudal duplication syndrome

Mahdi Eman,  Whitehead Matthew

Final Pr. ID: Poster #: SCI-046

CHARGE syndrome is a genetic disorder with multisystemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study is to assess the prevalence of coronal clival clefts in patients with CHARGE syndrome. Read More

Authors:  Mahdi Eman , Whitehead Matthew

Keywords:  CHARGE syndrome, Clival cleft

Al-saraf Ali,  Ong Seng

Final Pr. ID: Poster #: EDU-067

In the second part of this exhibit, congenital bone anomalies of the lower extremity will be identified and reviewed. Through this exhibit, the reader will be able to: 1. Define the most common entities encompassing congenital lower extremity bone anomalies based on classic clinical presentation and demographics. 2. Highlight key multi-modality imaging characteristics to accurately differentiate between the various congenital bone anomalies of the lower extremity. Read More

Authors:  Al-saraf Ali , Ong Seng

Keywords:  Tibial Hemimelia, Proximal Focal Femoral Deficiency, Amniotic Band Syndrome, Fibular Hemimelia, Tarsal Coalition

Nikam Rahul,  Kandula Ashrith,  Kumbhar Sachin,  Krishnan Vijay,  Donuru Achala

Final Pr. ID: Poster #: EDU-056

The inner ear anomalies are a complex group of disorders, the radiologic findings of which may be difficult to interpret. This exhibit details the basic embryology of inner ear with stress on correlation of timing of insult or arrest of development to patho-morphology, the classification schema of inner ear anomalies and various salient features aiding in accurate diagnosis. Read More

Authors:  Nikam Rahul , Kandula Ashrith , Kumbhar Sachin , Krishnan Vijay , Donuru Achala

Keywords:  Inner Ear, CHARGE Syndrome, Waardenburg Syndrome

Goldwasser Bernard,  Kazmi Faaiza,  Urbine Jacqueline,  Poletto Erica,  Malik Archana,  Mallon Mary

Final Pr. ID: Poster #: EDU-048

There is a wide array of pathologies which can cause diffuse changes in the pediatric kidney. The purpose of the presentation is to show a multimodality pictorial review of characteristic findings of a wide variety of diffuse renal abnormalities in the pediatric patient. Read More

Authors:  Goldwasser Bernard , Kazmi Faaiza , Urbine Jacqueline , Poletto Erica , Malik Archana , Mallon Mary

Keywords:  renal mass, congenital renal abnormalities, syndromes affecting the kidney

Tominna Marie,  Patel Sneha,  Noujaim Samir

Final Pr. ID: Poster #: EDU-058

Crouzon syndrome is an autosomal dominant hereditary craniosynostosis.

Although rare it is the most common syndrome seen within craniosynostosis. It is thus important for a pediatric radiologist to be aware of this condition and the imaging findings that can be seen.

This presentation will provide an illustrative imaging review of the neuro findings one will encounter in cases of Crouzon Syndrome.

Neuroimaging CT and MR images will be reviewed including shallow orbits with exophthalmos, hypoplastic maxilla, mandibular prognathia, premature fusion of sutures, kissing carotid canals, cervical fusion anomalies, and Chiari I malformations.

Some of the non-neuro findings which can also be seen include stylohyoid ligament calcification, various musculoskeletal deformities, and visceral anomalies. Read More

Authors:  Tominna Marie , Patel Sneha , Noujaim Samir

Keywords:  Crouzon syndrome

Oros Joseph,  Moredock Elisabeth,  Parish David,  Pfeifer Cory

Final Pr. ID: Poster #: EDU-053

The goals of this educational exhibit are to: 1. Explain the basis for the cause of diffusion restriction on brain MRI in children. 2. Discuss the broad differential diagnosis for diffusion restriction in pediatric emergency neuroradiology. 3. Emphasize causes of diffusion restriction unrelated to vascular occlusive disease in the brain. 4. Describe patterns of diffusion restriction commonly encountered in post-ictal states and posterior reversible encephalopathy syndrome. Read More

Authors:  Oros Joseph , Moredock Elisabeth , Parish David , Pfeifer Cory

Keywords:  Diffusion Restriction, Posterior Reversible Encephalopathy Syndrome, Seizure

Sarma Asha,  Knake Lindsey,  Whigham Amy,  Hernanz-schulman Marta,  Anani Uchenna,  Pruthi Sumit

Final Pr. ID: Poster #: CR-023

Duplication of the pituitary gland (DPG) is an extremely rare malformation, with only 40 reported cases in the medical literature. Phenotypes range from isolated DPG with normal development to cases with additional anomalies leading to morbidity and mortality (“DPG-plus” syndrome). We describe a patient with comprehensive fetal and postnatal imaging detailing known findings of DPG-plus syndrome and previously undescribed brain and body anomalies.

An infant male was diagnosed with an obstructive oral cavity mass by fetal MRI. Postnatal neuroimaging showed a fatty oral cavity mass containing dysmorphic mandibular elements. Upon biopsy, pathological assessment showed duplication of the maxillary complex versus mesenchymal hamartoma. Other anomalies included duplicated nasal cavity, absent olfactory bulbs, duplicated sella with sellar spine, optic chiasm and tubomamillary fusion, duplicated basilar artery, persistent falcine sinus, cleft palate, and bifid tongue. In addition, there was an unusual complex brainstem and cerebellar anomaly and extensive anterior cervical vertebral clefting with anterior cervicomedullary junction myelomeningocele. Body imaging showed horseshoe pulmonary sequestration, hiatal hernia, multiple intrathoracic and intraabdominal spleens in a manner inconsistent with heterotaxy, midline liver, duplicated IVC, and vertebral anomalies. Echocardiogram showed double outlet right ventricle. Genetics evaluation revealed variants of unknown significance in CCDC39, TBX5, and ZMYND10 that were considered unlikely to be related to the observed anomalies. Due to poor neurologic prognosis, the patient was transitioned to comfort care and passed away at 4 weeks of age. Read More

Authors:  Sarma Asha , Knake Lindsey , Whigham Amy , Hernanz-schulman Marta , Anani Uchenna , Pruthi Sumit

Keywords:  Duplicated pituitary gland plus, Syndrome

Mcclure Meghan,  Beavers Angela

Final Pr. ID: Poster #: EDU-011

Trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome) are the second and third most common chromosomal trisomy disorders, respectively, and their characteristic syndromic features have been well described; however, to our knowledge, no prenatal studies have reported the fetal MR findings of trisomy 13 and trisomy 18. For this reason, typical fetal MR features of trisomy 13 and 18 remain incompletely characterized and its role and limitations in its prenatal evaluation and diagnosis are not established in the literature.

In this cased-based, pictorial educational exhibit, we review the syndromic features of trisomy 13 and 18, and present the prenatal MR findings of six cases of trisomy 18 and three cases of trisomy 13, all confirmed by pre and/or postnatal genetic testing. We will discuss the strengths and weaknesses of prenatal MR imaging in the evaluation of trisomy 13 and 18 by comparing to prenatal ultrasound and utilizing postnatal imaging as a reference standard.

After reviewing this presentation, the learner will: (1) Be able to recognize not only the individual fetal MR appearance of abnormalities associated with trisomy 13 and 18, but recognize them as part of a trisomy syndrome. (2) Understand the strengths, limitations, and pitfalls of prenatal MR in evaluation and diagnosis of trisomy 13 and 18. (4) Become familiar with the key points and measurements that should be used in the assessment and diagnosis of the fetus with trisomy 13 and 18 and be included in the radiology report to best assist the multidisciplinary care teams in counseling the pregnant patient and providing care of the fetus and neonate with trisomy 13 and 18. Read More

Authors:  Mcclure Meghan , Beavers Angela

Keywords:  Trisomy, Patau syndrome, Edwards Syndrome

Supakul Nucharin

Final Pr. ID: Poster #: CR-005

To demonstrate an unusual association of VECTERL and uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndromes in fetal MRI with post mortem MRI correlation. Read More

Authors:  Supakul Nucharin

Keywords:  VECTERL, VATER, OHVIRA, Herlyn-Werner-Wunderlich syndrome, Fetal MRI

Saguintaah Magali,  Couture Alain,  Taleb Arrada Ikram,  Bolivar Perrin Julie,  Baud Catherine,  David Stephanie,  Prodhomme Olivier

Final Pr. ID: Poster #: SCI-007

To present a MRI technic to explore the fetal petrous bone (3D high resolution MRI) and choanae, olfactory bulbs and sulci (3D whole brain sequence). To present the clinical applications in fetal detection of CHARGE syndrome. To remind the major diagnostic criteria of CHARGE syndrome. Read More

Authors:  Saguintaah Magali , Couture Alain , Taleb Arrada Ikram , Bolivar Perrin Julie , Baud Catherine , David Stephanie , Prodhomme Olivier

Keywords:  fetal petrous bone, fetal olfactory bulbs, CHARGE syndrome, 3D HR fetal MRI

Shore Matthew,  Riedesel Erica

Final Pr. ID: Poster #: EDU-128

Hepatic sinusoidal obstruction syndrome (SOS) - previously termed hepatic veno-occlusive disease (VOD) - is a serious cause of acute liver failure in patients undergoing hematopoietic cell transplantation (HCT).

Hepatic SOS results from injury to the hepatic venous endothelium during intensive myelopablative chemotherapy or radiation therapy prior to HCT. Endothelial injury eventually leads to fibrous obliteration of the terminal hepatic venules with sinusoidal obstruction, hepatocyte necrosis, and hemorrhage, typically seen in the first 3-6 weeks post-transplant.

Early identification of this disease process is critical given high incidence of multi-organ failure and significant morbidity and mortality. Ultrasound is extremely valuable in accurate early diagnosis as imaging findings often precede clinical signs of disease. Spectrum of findings on gray-scale ultrasound includes hepatomegaly, heterogeneous hepatic parenchymal echotexture, ascites, and gallbladder wall thickening. Findings on Doppler ultrasound - increased mean hepatic artery resistive index (RI) and decreased or reversed portal venous flow - are highly sensitivie for hepatic SOS.

In this education exhibit we will review the epidemiology and pathophysiology of hepatic sinusoidal obstruction syndreom (SOS) and discuss imaging findings that aid in accurate diagnosis. Special attention will be given to Doppler ultrasound findings and additional diagnostic information provided by B-flow Doppler ultrasound. Read More

Authors:  Shore Matthew , Riedesel Erica

Keywords:  Hepatic Sinusoidal Obstruction Syndrome, Doppler Ultrasound, B-flow Ultrasound, Educational Exhibit

Patel Nimai,  Swana Hubert,  Johnson Craig

Final Pr. ID: Poster #: SCI-023

To assess the incidence, scope, clinical findings and imaging characteristics of GU pathology due to underlying KTS in pediatric patients with the goal of improved diagnosis and outcomes for children with this potentially fatal disorder. Read More

Authors:  Patel Nimai , Swana Hubert , Johnson Craig

Keywords:  Klippel-Trenaunay syndrome, lymphatic malformation, Venous malformation

Raju Rajiv,  Quijano Carla,  Prada Carlos

Final Pr. ID: Poster #: SCI-032

Hemihyperplasia is most classically associated with Beckwidth Wiedemann, though there are many cases which are associated with other syndromes or are idiopathic in nature. Current screening recommendations for hemihyperplasia do not distinguish between different subtypes of hemihyperplasia. The purpose of this study was to determine whether there is a statistically significant difference in incidence of development of abdominal tumors between hemihyperplasia patients with Beckwidth Wiedemann Syndrome and Non Beckwidth Wiedemann associated hemihyperplasia. Read More

Authors:  Raju Rajiv , Quijano Carla , Prada Carlos

Keywords:  Beckwidth Wiedemann Syndrome, Hemihyperplasia, Genetics

Szymanski Kathryn,  Arnold Cerys,  Dhatt Jovan,  Pfeifer Cory

Final Pr. ID: Poster #: CR-031

Kenny Caffey syndrome type 2 (KCS2) is a rare genetic syndrome affecting the bones, causing cortical thickening and medullary stenosis of tubular bones. Additional findings include short stature, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Here we discuss a case of this rare disease. The patient was a 4-year-old male with history of intrauterine growth restriction, poor natal growth with relative macrocephaly, and abnormal skeletal findings. Genetic testing revealed a de novo variant of the FAM111A gene, most consistent with Kenny-Caffey syndrome type 2. The patient was followed in the bone dysplasia clinic and was noted to have growth delay (height < 1 percentile, z-score = -6 SD) and poor weight gain. Labs showed low IGF-1 (z-score = -2.5 SD), and growth hormone stimulation test revealed a peak of 9.8 ug/L. MR brain (age 4 years) showed 1) borderline Chiari I malformation, 2) small globes, 3) partially empty, shallow sella, and 4) enlarged posterior ventricular atria. Our patient demonstrated intracranial findings that may be unique when compared to the literature and/or related to the patient's skeletal abnormalities. As KCS2 is a rare disorder, diagnosis may be difficult. The findings presented in this case offer insight into both typical and novel findings that may aid in diagnostic accuracy and undoubtedly warrant further investigation. Read More

Authors:  Szymanski Kathryn , Arnold Cerys , Dhatt Jovan , Pfeifer Cory

Keywords:  Kenny Caffey Syndrome

Alturkistani Tahani,  Levin Terry,  Kurian Jessica,  Mazzariol Fernanda

Final Pr. ID: Poster #: EDU-031

1.To review the embryology of female genital system.
2.To define Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and atypical MRKH, also called MURCS(Müllerian aplasia, unilateral renal agenesis and anomalies of the cervico-thoracic somites).
3.To discuss the imaging findings and clinical management of classic MRKH and contrast it to MURCS.
4.To discuss the rare association of MRKH and MURCS with gonadal dysgenesis/agenesis. US and MR were evaluated to determine efficacy of identifying adnexae. Read More

Authors:  Alturkistani Tahani , Levin Terry , Kurian Jessica , Mazzariol Fernanda

Keywords:  Gonadal dysgenesis, MRKH syndrome, MURCS, streak ovaries

Errampalli Eric,  Kosaraju Sriya,  Illimoottil Mathew,  Mcgowan Bryanna,  Boyd Alec,  Allam Emad

Final Pr. ID: Poster #: CR-026

Nail-patella syndrome (NPS) is a multisystemic autosomal dominant disease with neurologic, ocular, renal, and musculoskeletal manifestations. The incidence of NPS is reportedly 1 in 50,000, although this may be an underestimate due to its phenotypic variability allowing this disease to remain undiagnosed for multiple generations. A loss of function mutation of the LMXB1 gene, which influences dopaminergic and serotonergic neuronal differentiation, periocular mesenchymal development, renal podocyte development, limb patterning, and skull patterning, leads to NPS. Clinical findings include open-angle glaucoma, ocular hypertension, neuropathic pain and numbness/tingling, and renal failure. Absent, hypoplastic, or dystrophic fingernails are noted in 98% of cases. Almost all patients present with absent, hypoplastic, or irregular patellae that frequently sublux. About 70% of patients present with pathognomic iliac horns, which are corticomedullary processes continuous with the iliac bones at the gluteus medius muscle origin. Loss of skin creases over the distal interphalangeal joints is also a sensitive finding for NPS. Decreased extremity muscle mass and bone formation can lead to limited knee and elbow joint range of motion.

The subject of this case report is a 20-year-old female who presented to nephrology clinic for proteinuria. Onychia was noted on physical exam. Past medical history was significant for spastic diplegia, and surgical history included epiphysiodesis due to leg length discrepancy. The patient was relatively asymptomatic otherwise. CT of the pelvis demonstrated bilateral osseous excrescences of the iliac bones. Absence of the patella and posterior subluxation of the radial head were noted on radiographs. CT of the abdomen showed bilateral renal atrophy. Subsequent renal biopsy demonstrated findings consistent with NPS. The patient was placed on hemodialysis after progressing to renal failure.

The prognosis of NPS is favorable with proper screening precautions and early intervention; however, complications of this disease can lead to poor outcomes. Imaging is critical in diagnosing NPS through its musculoskeletal findings on radiography. Characteristic findings include small or absent patella, pathognomic bilateral iliac horns, abnormalities of the femoral condyles and trochlea, and radial head dysplasia/subluxation. Read More

Authors:  Errampalli Eric , Kosaraju Sriya , Illimoottil Mathew , Mcgowan Bryanna , Boyd Alec , Allam Emad

Keywords:  Nail-Patella Syndrome, Genetics, Multi-System

Sandhu Preet

Final Pr. ID: Poster #: EDU-126

1. To describe imaging appearance of OHVIRA ( Obstructed hemivagina and ipsilateral renal agenesis) on different imaging modalities including Ultrasound, CT and MRI.
2. To understand the close interrelationship between urinary and reproductive system development during embryogenesis. Stress the importance of association of urinary and reproductive abnormalities so that if multicystic dysplastic kidney (MCDK), renal dysplasia or agenesis is seen in a female neonate, a careful search for associated genital malformation such as uterus didelphys with obstructed hemivagina (UDWOH) /OHVIRA should be performed.
3. To demonstrate the association of MCDK with OHVIRA and to further support the fact that renal agenesis seen in cases of OHVIRA may actually represent involuted MCDK rather than true renal agenesis.
4. To stress the importance of early diagnosis of OHVIRA (obstructed hemivagina with ipsilateral renal agenesis), so that correct management at the onset of puberty can prevent abdominal pain and dysmenorrhea and other complications.

Embryology of urinary and reproductive system will be discussed briefly. Imaging appearance of OHVIRA on different imaging modalities including US, CT and MRI with cases showing both prenatal and postnatal imaging will be presented. Read More

Authors:  Sandhu Preet

Keywords:  OHVIRA, Renal agenesis, Herlyn-Werner-Wunderlich syndrome

Morgan Stephen,  Conway Deborah

Final Pr. ID: Poster #: CR-008

An infant was born at 36 weeks, 3 days gestation with a known lethal skeletal dysplasia, diagnosed on prenatal ultrasound. The infant was born alive with APGARs of 5 and 3. Comfort care was initiated, and the infant expired one hour later. Plain films of the skeletal system were obtained, which showed short, horizontal ribs and a small thorax. They also showed hypoplastic iliac bones, flattened acetabula, and postaxial polydactyly. The metaphyses of the long bones had convex central areas with lateral metaphyseal spikes. The constellation of findings was consistent with Short Rib Polydactyly Syndrome type III (Verma-Naumoff).

Inherited in an autosomal recessive pattern, SRPS is a group of rare, lethal osteochondrodysplasias caused by mutations in the DYNC2H1 gene, a component of the cytoplasmic dynein complex, which is involved in the generation and maintenance of cilia. This mutation results in dyskinesia involving the chondrocytes, leading to arrested maturation of cartilage and generalized loss of synchrony in cartilage removal and osteogenic differentiation.

Common anomalies that span all types of SRPS include a triad of micromelia, short horizontal ribs, and polydactyly. Four types of short-rib polydactyly syndrome have been described, which differ based on visceral involvement and the appearance of the metaphyses. Some have phenotypic overlap with various types of Short Rib-Thoracic Dysplasia. The four types of SRPS are: Saldino-Noonan (type I), Majewski (type II), Verma-Naumoff (type III), and Beemer-Langer (type IV). Type I (SN) is characterized by hypoplastic iliac bones, flattened acetabular roofs, rounded vertebrae with coronal clefts, and postaxial polydactyly. The long bones can have varied appearance of the metaphysis, including: pointed ends, convex central areas with lateral metaphyseal spikes, or ragged-appearing ends. A key distinguishing factor with type I is the absence of fibulae. Type III (VN) is very similar to type I, however, the fibulae are present. Visceral anomalies are less common with the Verma-Naumoff type. Type II (Majewski) presents with either pre- or postaxial polydactyly. The long bone metaphyses have smooth ends, the tibiae are ovoid and shorter than the fibulae, and the iliac bones are normal. Type IV (BL), like type II, can also have pre- or postaxial polydactyly and smooth metaphyses in the long bones. The distinguishing characteristics of the Beemer-Langer type include small iliac bones and bowed radii/ulnae. Read More

Authors:  Morgan Stephen , Conway Deborah

Keywords:  Short Rib Polydactyly Syndrome, Verma-Naumoff, osteochondrodysplasia

Reddivalla Naresh,  Opfer Erin,  Robinson Amie,  Reid Kimberly,  Chan Sherwin

Final Pr. ID: Poster #: SCI-053

Sinusoidal obstruction syndrome (SOS) is a potentially fatal disease affecting children following bone marrow transplantation (BMT). SOS diagnosis is clinical because traditional ultrasound has poor sensitivity and specificity with portal vein flow reversal occurring well after the disease is clinically evident. Ultrasound elastography is a newer technology that measures liver stiffness, which should increase in SOS due to passive hepatic congestion. Our hypothesis is that quantitative shear wave ultrasound elastography will be more accurate in detecting this disease compared with conventional ultrasound parameters. Read More

Authors:  Reddivalla Naresh , Opfer Erin , Robinson Amie , Reid Kimberly , Chan Sherwin

Keywords:  Sinusoidal Obstruction Syndrome, Veno-Occlusive Disease, Ultrasound Elastography

Stanley Parker,  Stanley Charles

Final Pr. ID: Poster #: CR-001 (T)

Superior mesenteric artery (SMA) syndrome, or Wilkie’s syndrome, is an obscure condition in which an acute angulation between the aorta and SMA leads to compression of the third part of the duodenum. Subsequently, patients typically present with a constellation of gastrointestinal findings that closely resemble small bowel obstruction, early satiety, and anorexia. SMA syndrome is most often observed in the setting of rapid weight loss, wasting conditions, and corrective spinal surgeries, where a decrease in retroperitoneal fat diminishes the cushion between the aorta and SMA, causing vascular compression of the duodenum. Diagnosis of SMA syndrome is one of exclusion and is based on the combination of highly suspicious clinical findings and confirmatory diagnostic imaging evidence of obstruction. Upper GI Fluoroscopy can demonstrate a dilated first and second portion of the duodenum, with compression of the third portion, and delayed passage of contrast past midline. Ultrasound and computed tomography (CT)/magnetic resonance imaging (MRI) enable measurement of the aortomesenteric angle and distance, with normal values ranging from 25-60° and 10-28mm, respectively, and values indicative of SMA syndrome ranging from 6-15° and 2-8mm, respectively.
We present a classic case of SMA syndrome in a 15-year-old patient. The patient presented with clinical symptoms consisting of scoliosis, chronic nausea and vomiting, weight loss, and anorexia. The patient then underwent Upper GI Fluoroscopy which demonstrated duodenal dilatation and delayed contrast transit past midline, achieved only after prolonged decubitus and prone positioning. Subsequently, abdominal ultrasound demonstrated an aortomesenteric angle of 10-18° and an aortomesenteric distance of 5 mm. Lastly, abdominal MRI demonstrated an aortomesenteric angle of 15° and an aortomesenteric distance of 3 mm, corroborating the ultrasound findings and confirming the diagnosis of SMA syndrome. The patient was initiated on nutritional support and at most recent follow-up was responding well to conservative treatments. Read More

Authors:  Stanley Parker , Stanley Charles

Keywords:  SMA Syndrome, Ultrasound, MRI

Portal Daniel,  Neuman Jeremy

Final Pr. ID: Poster #: CR-013

A 12 year old hispanic male with a past medical history of rectal prolapse presented to the ED from the pediatrician with a Hgb of 4.5 on outpatient lab work. The patient’s mother reports a history of constipation, staying in the bathroom for long periods of time and straining. Additionally the patient has been fatigued and pale for the last year with intermittent bloody diarrhea for the last 3 years.
Inpatient testing included defecography which showed evidence of rectal prolapse. MR enterography revealed wall thickening and hyperenhancement of the rectosigmoid colon, consistent with infectious/inflammatory etiology. Colonoscopy with biopsy was performed and histopathology results were consistent with solitary rectal ulcer syndrome.
The patient was successfully treated conservatively with dietary changes, topical medications and education about bathroom habits.

Solitary rectal ulcer syndrome (SRUS), first described in 1829, is an uncommon, benign disease characterized by clinical history, imaging (including defecography, and MR enterography), colonoscopy and diagnosed by histopathological findings. With an annual prevalence of 1 in 100,000, SRUS is most commonly found in young adults, but also seen in pediatric and geriatric populations.
Clinical presentation usually includes a history of prolonged straining, constipation, lower abdominal pain, rectal bleeding, mucous discharge and rarely rectal prolapse. Solitary rectal ulcer syndrome is actually a misnomer as only 40% of cases present with ulcers; even fewer present with a solitary ulcer. The etiology is not completely understood but is likely multifactorial.
Diagnosis of SRUS is often missed or delayed due to low clinical suspicion, inadequate rectal biopsy or failure to recognize histopathological features of the disease. It is therefore important to recognize solitary rectal ulcer syndrome and the diagnostic features and maximize the likelihood of accurately diagnosing SRUS early on. Read More

Authors:  Portal Daniel , Neuman Jeremy

Keywords:  MR Enterography, Solitary Rectal Ulcer Syndrome, Defecography

Martinez-rios Claudia,  Jariwala Mehul,  Highmore Kerri,  Watanabe Duffy Karen,  Laxer Ronald,  Stimec Jennifer

Final Pr. ID: Poster #: EDU-050

Sterile pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome) is a rare autosomal dominant inherited entity due to a missense mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene, characterized by typical recurrent episodes of sterile pyogenic arthritis, either spontaneous or following a trauma, and skin manifestations characterized by pyoderma gangrenosum and acne. The articular manifestation is seen in the first decade of life, where most of the initial episodes are treated as septic arthritis. Cutaneous manifestations appear in early adulthood. Although uncommon, the potential therapeutic and clinical implications due to the rapidly destructive nature of PAPA syndrome warrant a prompt diagnosis. We present two unrelated pediatric patients from different institutions with genetically confirmed PAPA syndrome. The purpose of this study was to illustrate the musculoskeletal radiologic spectrum of findings of PAPA syndrome, and to discuss the differential diagnostic entities commonly seen in children. A second objective was to review the clinical and laboratory findings that allow diagnosis of PAPA syndrome Read More

Authors:  Martinez-rios Claudia , Jariwala Mehul , Highmore Kerri , Watanabe Duffy Karen , Laxer Ronald , Stimec Jennifer

Keywords:  PAPA, syndrome, arthritis, musculoskeletal, gene-mutation

Ndolo Josephine,  Crane Gabriella,  Hernanz-schulman Marta

Final Pr. ID: Poster #: CR-001

Introduction
Scimitar syndrome and subdiaphragmatic total anomalous pulmonary venous connections (TAPVC) are congenital pulmonary vascular anomalies that are not typically diagnosed on routine abdominal sonography. We present three cases of ultrasound diagnosis of neonates with subdiaphragmatic pulmonary veins diagnosed on abdominal ultrasound; to the best of our knowledge, this is the first reported case of abdominal ultrasound diagnosis of previously unknown scimitar syndrome.

Case reports
Case 1: 16 day old girl born at term with cardiac dextroposition and right lung hypoplasia. On abdominal ultrasound, a large vascular structure was seen draining into the inferior vena cava (IVC) near the hepatic confluence, arising in lung above the diaphragm. Doppler confirms venous flow into the IVC (Figure 1); an arterial aortic branch with pulmonary spectral Doppler signature, extended into the base of the right lung. The diagnosis of scimitar syndrome was made, confirmed several weeks later with CT angiography.

Case 2: One day old girl born at 29 weeks gestation had a prenatal diagnosis of complex congenital heart disease. Abdominal ultrasound demonstrated asplenia. As part of the complex, the examination demonstrated the common pulmonary vein draining into the left portal vein, decompressing into the heart via the ductus venosus, with color and spectral demonstration of flow direction and velocity. (Figure 2) Closure of the ductus venosus contributed to the demise of this child who was inoperable due to her extreme prematurity and her other congenital cardiac lesions.

Case 3: Eight day old term infant with multiple congenital anomalies. An abdominal ultrasound for heterotaxy evaluation demonstrated a large anomalous vessel arising in the chest between the descending aorta and esophagus posteriorly, and the atrium anteriorly, descending into the abdomen draining into the portal vein, with a partially obstructing membrane near the insertion point. (Figure 3). The TAPVC was repaired on day 9 of life with direct anastomosis to the left atrium.

Conclusion:
In conclusion, subdiaphragmatic vascular components of thoracic anomalies should be recognized at abdominal sonography by pediatric radiologists, who may be the first to both recognize and diagnose these conditions. Read More

Authors:  Ndolo Josephine , Crane Gabriella , Hernanz-schulman Marta

Keywords:  total anomalous pulmonary venous connection (TAPVC), Scimitar syndrome, ultrasound

Patel Arjun,  Sarma Asha,  Krishnasarma Rekha,  Benedetti Daniel,  Pruthi Sumit,  Snyder Elizabeth

Final Pr. ID: Poster #: EDU-057

The prevalence of pediatric cancers attributable to hereditary cancer predisposition syndromes (CPS) has grown in recent years due to the increasing recognition of links between germline mutations and pediatric cancers. As a result, a rapidly increasing population of patients with CPS are being seen in pediatric radiology practice. In collaboration with oncologists, surgeons, and other specialists, the radiologist plays an essential role in the management of these patients. For example, they may be the first to recognize the constellation of findings leading to the diagnosis of a CPS. In addition, the radiologist who is knowledgeable about pediatric CPS plays a pivotal role in the planning of imaging evaluations, which may need to be concise or comprehensive depending on the clinical situation, with judicious use of ionizing radiation, procedural sedation, and contrast. This is especially important because, although there are consensus screening and surveillance guidelines for the most common CPS, such guidelines have not been established for less common syndromes.

This educational exhibit seeks to provide an overview of various CPS, emphasizing 1) genetic underpinnings and mechanisms related to cancer predisposition, 2) the common and uncommon imaging findings, 3) preferred imaging techniques, and 4) currently available screening and surveillance recommendations. Pediatric CPS that will be discussed here include Li-Fraumeni syndrome, neurofibromatosis type I, von Hippel Lindau disease, Beckwith-Wiedemann syndrome, DICER-1 related conditions, Familial adenomatous polyposis, and Gorlin syndrome, as well as neuroendocrine syndromes (e.g., multiple endocrine neoplasia). Less common cancer predisposition syndromes, including DNA-repair related syndromes such as Ataxia-telangectasia, as well as Rubenstein-Taybi syndrome, and PTEN hamartoma tumor syndrome will also be discussed. Read More

Authors:  Patel Arjun , Sarma Asha , Krishnasarma Rekha , Benedetti Daniel , Pruthi Sumit , Snyder Elizabeth

Keywords:  cancer predisposition syndrome, hereditary cancer

Frost Jamie

Final Pr. ID: Poster #: EDU-006

Congenital heart disease (CHD) is the most common type of birth defect; affecting ~1% of the births per year in the U.S. Advancements in medical and surgical treatment have markedly improved survival and even infants with complex CHD survive into adulthood. However, extracardiac complications in the newborn period can cause increased morbidity and mortality. These complications can relate to alteration in flow dynamics, treatment changes, and/or sequelae of associated syndromes (Trisomy 21, 22q deletion syndrome, Heterotaxy, PHACES). The purpose of this exhibit is to highlight extracardiac complications of CHD and to review their imaging findings. Imaging findings to be reviewed will include catheter thromboses, necrotizing enterocolitis, arterial ischemic strokes, infections, malrotation, pulmonary complications related to prematurity, prolonged intubations, and associated syndromes, and complications of extracorporeal membrane oxygenation. The goal of this exhibit is to familiarize radiologists with the multiplicity of extracardiac complications in infants with CHD and to review the common imaging findings. Read More

Authors:  Frost Jamie

Keywords:  CHD related Syndromes, Stroke

Alsarhani Haifa,  Somerville Scott,  Ahmet Alexandra,  Sawyer Sarah,  Tomiak Eva,  Martinez-rios Claudia

Final Pr. ID: Paper #: 145

Cancer predisposition syndromes (CPS) are rare genetic disorders with increased risk of benign and malignant neoplasms. A few of these syndromes predispose to thyroid gland pathology, including thyroid carcinoma. The purpose of this study is to review the spectrum of diagnostic outcomes of thyroid abnormalities in pediatric patients diagnosed with a CPS at a tertiary care pediatric hospital. Read More

Authors:  Alsarhani Haifa , Somerville Scott , Ahmet Alexandra , Sawyer Sarah , Tomiak Eva , Martinez-rios Claudia

Keywords:  Cancer predisposition syndromes, Neck