Relan Ramit,  Lawrence Charles

Final Pr. ID: Poster #: CR-007

Internal hernias are a rare cause of chronic abdominal pain and bowel obstruction in pediatric patients. Furthermore, congenital trans-mesenteric hernias constitute only 5–10% of internal hernias. Internal paraduodenal hernias are more common in adults secondary to postoperative mesentery defects. However, transmesenteric hernias in children are caused from a congenital defect in small bowel mesentery near the ileoceclal region or ligament of trietz.

The subject of the case report is a 17 year old male who presented to primary care for several weeks of chronic abdominal pain and recurrent billious emesis. Initial abdominal radiographs demonstrated no evidence of obstruction. The patient presented to radiology for CT evaluation which demonstrated herniated loops of mid small bowel in the left hemiabdomen through a mesenteric defect. Patient was taken to the operating room for an elective exploratory laporotomy which demonstrated herniated loops of jejunum at the mesenteric defect near the ligament of trietz. The herniated loops of jejunum were anchored to duodenum and the mesenteric defect was closed. Patient tolerated the surgery without any complications and reports resolution of symptoms.

Trans-mesenteric hernias are difficult to diagnose due to lack of specific physical symptoms or laboratory findings to confirm the suspicion. Therefore, imaging findings play a vital role in diagnosis. CT imaging is useful to evaluate for mesenteric defects, obstruction and ischemia. Internal hernias with congenital mesenteric defects should be included in the differential for chronic abdominal and small bowel obstructions. Read More

Authors:  Relan Ramit , Lawrence Charles

Keywords:  Internal hernia, Congenital mesenteric defect

Schoeneberg Laura,  Bornemeier Renee,  Reemtsen Brian,  Greiten Lawrence,  Greenberg S Bruce,  Lyons Karen,  Renno Markus

Final Pr. ID: Poster #: CR-001

Limited experience with 3D print technology has been reported for surgical planning in infants with congenital heart disease. We present 5 infants with complex intracardiac anatomy for whom 3D cardiac models from gated cardiac CT angiograms facilitated surgical planning.

Case 1: Term 2-day-old infant with d-transposition of the great arteries (TGA), large anterior malalignment ventricular septal defect (VSD), and severe aortic arch hypoplasia. The 3D cardiac model confirmed feasibility of biventricular repair using a Yasui-type operation, with Norwood arch reconstruction, Rastelli VSD closure, and right ventricle to pulmonary artery (RV-PA) conduit placement.

Case 2: 2-month old, ex-34-week premature infant with double-outlet right ventricle (DORV), side-by-side great arteries, large remote predominantly-subaortic VSD, and pulmonary stenosis (PS). The 3D cardiac model highlighted the remoteness of the VSD from the outflow tracts, prompting right ventricular outflow tract patch augmentation without VSD closure when the patient developed hypercyanotic spells.

Case 3: Term 7-day-old infant with Goldenhar syndrome, D-TGA, large posterior malalignment VSD with inlet extension, and PS. The first 3D cardiac model raised concern that VSD closure would be difficult as a newborn due to VSD size, prompting placement of a BT shunt and pulmonary artery band. The second 3D model at 11 months of age demonstrated feasibility of biventricular repair with Rastelli VSD closure and RV-PA conduit placement.

Case 4: Term 2-day-old infant with 22q11.2 deletion syndrome, type B interruption of a right aortic arch, aberrant left subclavian artery, posterior malalignment VSD, small bicuspid aortic valve, and superior-inferior branch pulmonary artery relationships. The 3D cardiac model demonstrated need for VSD enlargement to enable complete repair with Yasui operation with LeCompte maneuver.

Case 5: Term 3-week-old infant with mesocardia, ventricular inversion, DORV, L-malposed great arteries, subpulmonic VSD, multilevel PS, and mitral chordal attachments to the crest of the ventricular septum. The 3D cardiac model suggested that VSD enlargement might enable a double switch operation with Rastelli VSD baffle. However, during the operation at 20 months old, mitral chordal apparatus prevented VSD enlargement, necessitating bidirectional Glenn instead. Read More

Authors:  Schoeneberg Laura , Bornemeier Renee , Reemtsen Brian , Greiten Lawrence , Greenberg S Bruce , Lyons Karen , Renno Markus

Keywords:  3D model, Congenital heart disease, Surgical Planning

Fujiwara Takashi,  Browne Lorna,  Malone Ladonna,  Lu Quin,  Fonseca Brian,  Dimaria Michael,  Barker Alex

Final Pr. ID: Paper #: 040

4D flow MRI with full coverage of the heart and proximal vessels is a powerful tool to understand hemodynamic pathology arising from congenital heart disease (CHD) and subsequent surgery; however, scan times often exceed 10 minutes thereby limiting widespread adoption in pediatrics. Decreasing scan time using compressed-SENSE (CS), a combination of conventional parallel imaging (SENSE) and randomized spatial undersampling, shows promise over SENSE alone. However, both the feasibility and its effect on accurate flow quantification in pediatrics has not been evaluated. This study investigated the feasibility of CS for pediatric 4D flow MRI to quantify flow indices used in risk stratification of CHD such as coarctation or pulmonary regurgitation, in comparison with SENSE. Read More

Authors:  Fujiwara Takashi , Browne Lorna , Malone Ladonna , Lu Quin , Fonseca Brian , Dimaria Michael , Barker Alex

Keywords:  4D flow, Compressed SENSE, Congenital heart disease

Sheykhsoltan Mana,  Scriven Kelly,  Hoa Michael,  Zandieh Arash

Final Pr. ID: Poster #: CR-028

Xq21 deletions are rare and infrequently documented in the medical literature. Genomic analysis of deletions in Xq21 indicates an association with X-linked deafness (XLD), intellectual disability, and choroideremia. A limited number of studies have assessed the significance of cochlear malformations with brain parenchymal abnormalities. A possible mechanism linking inner ear deformity and hypothalamic malformations has been attributed to a DNA transcription factor, encoded by POU3F4, playing a role in nervous system, pituitary gland, hypothalamus, and inner ear development.

The subject of this case is a 14-month-old male with a history of bicuspid aortic valve and developmental delays that presented to otolaryngology with hearing loss. He failed his newborn hearing screening, and subsequent auditory brainstem response evaluation revealed bilateral mixed conductive and sensorineural hearing loss.

His magnetic resonance imaging (MRI) internal auditory canal (IAC) study at 13 months of age showed features consistent with congenital XLD with incomplete partition type 3 (IP-III) and associated bilateral symmetric structural abnormalities of the inner ear structures. Fluid-signal intensity was noted in the bilateral middle ear cavities with partial mastoid effusions. There was also evidence of hypothalamic malformation.

His genetic testing for chromosome microarray at 15 months of age showed a 12246 kb pathogenic deletion at Xq21.1q21.32 that was identified and confirmed in his mother as well. The deleted intervals involve 16 genes, three of which (POU3F4, ZNF711, CHM) are associated with known clinical disorders and were confirmed by a hearing loss gene panel. Pathogenic variants in the POU3F4 gene are associated with X-linked deafness-2 (DFNX2) and presentation of hearing loss. Pathogenic variants in CHM are associated with choroideremia, characterized by retinal pigment epithelium and photoreceptor degeneration. Pathogenic variants in ZNF711 are associated with intellectual disability.

The purpose of this case report is to comment on the clinical presentation and radiologic findings of an infant with Xq21 deletions to add to existing literature on XLD. Malformations in the hypothalamus associated with IP-III currently have unknown clinical significance, and IP-III anomaly may affect the selection of cochlear implant type. Read More

Authors:  Sheykhsoltan Mana , Scriven Kelly , Hoa Michael , Zandieh Arash

Keywords:  Congenital Deafness

López Diana,  Arrate Antonia,  Leal Camilo,  Méndez Daniela,  Pérez-marrero Lizbet

Final Pr. ID: Poster #: CR-043

Case report: Congenital bronchobiliary fistula is a rare congenital malformation, with high morbidity and mortality. It is characterized by a communication between the respiratory and digestive tracts, between a bronchus and the bile duct.
This is a full-term female newborn patient, appropriate for gestational age, who from the third day of life presents with progressive respiratory difficulty associated with abundant waste through a nasogastric tube. She evolved with greater respiratory difficulty, so she was kept on a complete bowel rest and with a nasogastric tube, which increased his output. Airway aspiration was suspected, and an esophagus-stomach-duodenum study was performed to evaluate gastroesophageal reflux, which was normal. The study continued with abdominal ultrasound, showing aerobilia.
The patient evolves with severe respiratory distress and requires mechanical ventilation on day 15, so a chest tomography is performed, which shows aerobilia and a communicating tract between the right main bronchus and the bile duct.
Surgical management was performed with closure of the proximal end of the fistula at the supradiaphragmatic level, without intervening the intrahepatic tract.
The newborn later develops cholestatic syndrome, which is studied with cholangiopancreatography magnetic resonance (MRCP) that reports atresia of the extrahepatic bile ducts, performing an entero-biliary anastomosis in a second surgical procedure.
During her childhood after being discharged, she was diagnosed with several obstructive bronchial syndromes, cholangitis and malnutrition, remaining stable at the outpatient level. She is currently 15 years of age, her only chronic illness being with chronic liver disease, without evidence of clinical or elastographic fibrosis.
Bronchobiliary fistula presents as bronchitis and repeated bronchopneumonia, bilioptysis, cholangitis and sepsis in some cases. Proposed etiologies are either union of an accessory bronchus with an aberrant bile duct or duplication of the foregut. This diagnosis can be associated with other malformations such as bile duct atresia and right diaphragmatic hernia. Computed tomography with 2D and 3D reconstructions and MRCP are recommended for diagnostic workup. Read More

Authors:  López Diana , Arrate Antonia , Leal Camilo , Méndez Daniela , Pérez-marrero Lizbet

Keywords:  Bronchobiliary fistula, Congenital malformation, Bilioptysis

Blagdon Ryan,  Thompson Deborah,  Schmit Pierre

Final Pr. ID: Poster #: EDU-014

The ductus venosus is a part of the fetal circulation that permits oxygenated blood in the umbilical vein to bypass the liver and provide oxygenated blood to the fetal brain and heart. Absence of the ductus venosus is a rare anomaly associated with a number of serious, life-threatening and often deadly conditions. Studies have evaluated the use of ultrasound for prenatal evaluation and detection of absent ductus venosus; however, no studies have reported non-ultrasound postnatal radiological findings of absent ductus venosus. Here, we describe the expected anatomy in those with absent ductus venosus and present abdominal x-rays of 3 infants to illustrate an expected but abnormal course of umbilical venous lines in these patients. As many as 15.6% of patients with absent ductus venosus have it in isolation and with 67-100% postnatal survival when occurring in isolation. Thus, the postnatal incidental identification of absent ductus venosus is a clinical possibility for pediatric radiologists that review abdominal x-rays to check catheter/line placement. Familiarity with this abnormal course of umbilical venous lines may assist in making this rare postnatal diagnosis and avoid potentially life-threatening complications secondary to line malposition/repositioning. Read More

Authors:  Blagdon Ryan , Thompson Deborah , Schmit Pierre

Keywords:  Ductus venosus, Vascular, Congenital

El Hawari Mohamad,  Joshi Akash,  Zarchan Adam,  Dobbs-desilet Debbie,  Ornelas Samuel

Final Pr. ID: Poster #: EDU-101

Congenital high airways obstruction sequence (CHAOS) refers to a relatively rare fetal anomaly caused by high airway obstruction (tracheal or laryngeal) caused by atresia or stenosis. Similar imaging findings can be seen with airway obstruction due to oropharyngeal or neck masses such as teratoma. Antenatal imagining findings include but not limited to dilated fluid filled trachea and proximal bronchi, bilateral enlarged echogenic lungs with relative small sized midline heart, flattening or eversion of the diaphragm, feta ascites and anasarca and polyhydramnios. The prognosis is overall poor, however it is improved after planning for delivery and performing EXIT procedure (ex utero intrapartum treatment) with tracheostomy.
We present a case of a 20-year-old female G1P0 at 25 weeks of gestation diagnosed with Congenital high airways obstruction sequence (CHAOS) with typical features on prenatal ultrasound and fetal MR. Delivery was planned and an EXIT procedure was performed and the newborn survived. Read More

Authors:  El Hawari Mohamad , Joshi Akash , Zarchan Adam , Dobbs-desilet Debbie , Ornelas Samuel

Keywords:  Congenital High Airway Obstruction Sequence, Ultrasound, MRI

Southard Richard,  Ellsworth Erik,  Moe Tabitha,  Augustyn Robyn,  Thorkelson Marrit,  Bardo Dianna

Final Pr. ID: Poster #: EDU-090

The structure of the heart is more complex than 4 major chambers, 4 major valves, venous inflow and arterial outflow.

Muscular and soft tissue ridges, perforated membranes, tissue flaps, electrical pathways, external grooves, endocardial surface characteristics, and a core architecture structured of fibrous tissue and embryonic tissue remnants form distinguishing anatomic landmarks. These structures provide insight into cardiac development, serve physiologic purpose, define structural and functional elements, as well as offer prognostic information.

Specific details of cardiac anatomy may not be recognized on cardiac MR and CT examinations. Structural anomalies that affect cardiac function and anatomic or physiologic relationships may be abnormal in hearts with congenital malformations. The fine structural details of the heart are typically not part of an imagers search pattern and are therefore overlooked or underreported. Each minute structure and anatomic characteristic provides clues to errors in cardiac formation and may provide clinically relevant diagnostic information. After palliation of CHD defining anatomic structure may be lost, displaced, interrupted or even restored.

Important processes, corresponding anatomic landmarks, and effects of malformation in defining congenital heart disease anatomy, physiology and functional variation from normal include basal structures such as the central fibrous body of the heart, atrial structures including the crista terminalis, the sinus venarum, and eustacian valve, and ventricular structures such as the crista supraventricularis.

Each structure is described along with its normal location, anatomy functional and physiologic importance, the effect of congenital malformation, and imaging findings as in the example of the central fibrous body (table 1).

Minute cardiac anatomy will be shown in illustration as well as in CT and MR images (figure 1). Read More

Authors:  Southard Richard , Ellsworth Erik , Moe Tabitha , Augustyn Robyn , Thorkelson Marrit , Bardo Dianna

Keywords:  Cardiac anatomy, Cardiac MR, Cardiac CT, Congenital heart disease, Embryology

Lai Kuan-chi,  Martinez-agosto Julian,  Chawla Soni,  Zipser Brian

Final Pr. ID: Poster #: CR-064

Optic nerve aplasia (ONA) is a very rare developmental anomaly characterized by absence of optic nerve, retinal ganglion, and optic nerve vessels. The majority of reported ONA cases are unilateral. The rarer cases of bilateral ONA are often associated with additional brain anomalies. ONA is considered distinct from optic nerve hypoplasia. Both environmental and genetic factors have been hypothesized to contribute to ONA, and several genetic mutations have been identified, including PAX6, OTX2, CYP26A1, or CYP26C1. We report a case of bilateral ONA in an otherwise healthy infant with mild hypoplasia of the corpus callosum without dysplasia, and macrocephaly.
A 13-month-old male presented for evaluation of macrocephaly and global developmental delay that was attributed to cortical blindness. He was born full-term without complications, however mother felt no fetal movement for one week prior to delivery. Abnormal roving eye movements were noted since the early neonatal period. There was no family history of any congenital diseases. Examination revealed conjugate non-purposeful rapid eye movements without nystagmus, bilateral lens opacification, and absence of the pupillary light response, startle reflex, and red reflex. The remainder of the physical exam was normal.
MRI of the brain and obits demonstrated absence of the bilateral optic nerves, optic chiasm, and the optic tracts. The globes were normal in size and appearance, although with the right minimally larger than the left. The corpus callosum was relatively thin, but intact, suggesting mild hypoplasia without dysplasia. In contrast to the majority of reported bilateral ONA cases that have associated CNS anomalies (polymicrogyria, corpus callosum agenesis, hypopituitarism, hydrocephalus, microphthalmus), our patient was only noted to have macrocephaly and mild hypoplasia of the corpus callosum. No other brain structural abnormalities were present. Initial genetics evaluation with a microarray was normal, therefore further testing with exome sequencing is planned. We report an extremely rare case of bilateral ONA in an otherwise healthy infant and review the literature for the associated radiologic and genetic findings. Read More

Authors:  Lai Kuan-chi , Martinez-agosto Julian , Chawla Soni , Zipser Brian

Keywords:  Optic nerve, aplasia, congenital

Suryaningrat Windu,  Amal Mohamad,  Sekarsari Damayanti

Final Pr. ID: Poster #: CR-031

The bridging bronchus is a rare bronchus anomaly which mostly found in infants and children. Aberrant bronchus that arises from either right or left main bronchus and crosses the mediastinum to supply the collateral lung lobe has come to the term of bridging bronchus. The diagnosis is often challenging as the bridging bronchus itself can be asymptomatic or presented by recurrent respiratory distress, but the use of right protocol in cross-sectional imaging is helpful enough to find the bridging bronchus.
This case report aims to present a case of a 5-month-old boy with recurrent pneumonia. He experienced episodes of severe dyspnea, fever, and desaturation, with negative PCR for covid-19. His echocardiography showed a moderate ventricular septal defect (VSD), worsening his dyspnea episodes which were accompanied by the decrease of oxygen saturation to 92% in room air. He underwent VSD closure procedure, which omitted the desaturation episodes, yet still experienced recurrent episodes of dyspnea and fever within 4 months of follow-up. In each episode, he had to be hospitalized and received conventional therapy by using antibiotics, bronchodilators, corticosteroids. Computed tomography (CT) scan of thorax using the pediatric radiation dose was done to evaluate the cause of recurrent pneumonia. Imaging findings in post-contrast slices (taken in inspiration phase) showed no connection between right lower lobe and left main bronchus, which was then suspected as esophageal bronchus. Then, in pre-contrast slices (taken in expiration phase) showed branch of the trachea into a right main bronchus and a stenotic aberrant bronchus (bridging bronchus, type 2) to the left hemithorax, and branching as right lower lobe bronchus and left main bronchus. Further evaluation of all slices in CT scan of thorax showed the stenotic bridging bronchus occluded in post-contrast slices, which were accidentally taken in inspiration phase. The occluded bridging bronchus led to non-optimal ventilation of the left lung lobes and right lower lobe, causing an imbalance of mucus clearance. Thus, increases the risk of mucus accumulation and rise the bacterial risk of infection which manifests as recurrent pneumonia in this patient. Nevertheless, within four months of follow up the patient was discharged with stable condition and symptoms-free. Read More

Authors:  Suryaningrat Windu , Amal Mohamad , Sekarsari Damayanti

Keywords:  bridging bronchus, congenital airway anomaly, airway anomaly

Golden Eleza,  Simoneaux Stephen,  Dickson Paula

Final Pr. ID: Poster #: CR-049

To describe the radiographic appearance of subclinical calcified brown fat necrosis and to delineate the associated clinical and laboratory findings. While brown fat necrosis has been described in infants with underlying cardiac disease treated with prostaglandins, we emphasize hypotension from cardiac or respiratory arrest as a primary risk factor. Read More

Authors:  Golden Eleza , Simoneaux Stephen , Dickson Paula

Keywords:  fat necrosis, soft tissue calcification, congenital heart disease

Nakagawa Motoo,  Ozawa Yoshiyuki,  Tanaka Yoshihiro,  Shibamoto Yuta

Final Pr. ID: Poster #: EDU-002

Characteristic chest radiographic findings of patients with congenital heart disease have been reported for some decades ago. For beginner, it may be hard to detect these findings and to understand reasons why these findings depict. Recently, radiologists can interpret specific findings of congenital heart disease because technique of CT have been developed. Read More

Authors:  Nakagawa Motoo , Ozawa Yoshiyuki , Tanaka Yoshihiro , Shibamoto Yuta

Keywords:  congenital heart disease, chest radiograph, dual source CT

Bhalla Deeksha,  Jana Manisha,  Manchanda Smita,  Bhalla Ashu,  Naranje Priyanka

Final Pr. ID: Poster #: EDU-069

Teaching points:

The spectrum of neck masses in neonates and infants (< 2 years) differs considerably from those in older children
Understand characteristic imaging appearances, particularly recognise entities that do not require sampling for diagnosis
Learn algorithmic approach to differential diagnosis based on age and lesion morphology with case based examples

Table of contents:
Introduction: Incidence, clinical considerations
Classification:
Age: Neonate
Cystic
Branchial cleft cyst
Dermoid cyst
Thyroglossal duct cyst
Solid:
Germ cell tumor
Congenital hemangioma
Neuroblastoma
Mixed
Primitive myxoid mesenchymal tumor (PMMT)
Teratoma

Age: Older infants
Cystic
Branchial cleft cyst
Dermoid cyst
Thyroglossal duct cyst

Solid:
Lymphoma
Granulocytic sarcoma
Rhabdomyosarcoma
Multinodular vacuolating tumor of infancy (MNTI)
Solitary fibrous tumor (SFT)
Fibrous tumors: Fibrous hamartoma of infancy, infantile fibrosarcoma

Vascular malformation (microcystic lymphatic, venolymphatic, arteriovenous)

Infections
Ludwig angina
Zygomycosis

Practical diagnostic algorithms based on age, location (involved neck space) and morphology
Conclusion Read More

Authors:  Bhalla Deeksha , Jana Manisha , Manchanda Smita , Bhalla Ashu , Naranje Priyanka

Keywords:  Neck tumor, congenital, vascular malformation

Nosaka Shunsuke,  Fujino Akihiro,  Kanamori Yutaka,  Niiya Noriko,  Okamoto Reiko,  Miyazaki Osamu,  Muto Ayako,  Miyasaka Mikiko,  Tsutsumi Yoshiyuki,  Aoki Hidekazu,  Uematsu Satoko

Final Pr. ID: Poster #: EDU-105

Congenital diaphragmatic hernia (CDH) is the result of incomplete closure of the normal pleuroperitoneal canal. CDH is usually detected prenatally or present in the newborn period with severe respiratory distress. In contrast, delayed presentation of CDH (D-CDH), defined as CDH diagnosed at later than 30 days of age, is known as rare subset of CDH. The outcome of patients with D-CDH is generally favorable, but misdiagnosis can result in morbidity and mortality. This educational exhibit will demonstrate clinico-radiological characteristics of D-CDH. Read More

Authors:  Nosaka Shunsuke , Fujino Akihiro , Kanamori Yutaka , Niiya Noriko , Okamoto Reiko , Miyazaki Osamu , Muto Ayako , Miyasaka Mikiko , Tsutsumi Yoshiyuki , Aoki Hidekazu , Uematsu Satoko

Keywords:  Delayed presentation, Congenital diaphrargmatic hernia

Krishnan Venkatram,  Jaganathan Sriram,  Murphy Janice,  Choudhary Arabinda,  Jayappa Sateesh,  Rowell Amy,  Charles Glasier,  Ramakrishnaiah Raghu

Final Pr. ID: Poster #: EDU-073

Caudal regression syndrome (CRS) refers to a rare disorder with varying degrees of agenesis or malformations of the lower thoracic, lumbar, and sacral spine as well as the spinal cord with varying clinico-radiological features. Estimated incidence ranges from 5-10:100,000 births. Imaging is an integral part of the diagnosis and management of this condition. An extensive review of the imaging spectrum of CRS with several case-based examples would enable a complete understanding of the condition.

We reviewed the imaging appearance of several cases of caudal regression, including in utero cases, from our tertiary care university based pediatric hospital. The various associated malformations, especially of the spinal cord, were examined in detail. We also analyzed the clinical symptomatology of these patients and correlated them with the imaging patterns. A detailed review of related literature was performed and consolidated information on the clinico-radiological spectrum of CRS was compiled.

The following aspects of CRS have been discussed in detail:
Predisposing maternal conditions and pathogenesis of CRS in the fetus.
Pang groups 1 and 2 CRS and their imaging features.
Renshaw types 1 to 4 sacral agenesis and their imaging features.
Role of radiographs, ultrasound, and MRI in CRS.
Spectrum of MRI features in the cord including shape of conus, level of termination, presence of cord tethering, associated neural tube defects and associated syrinx.
Clinical manifestations of various types and their correlation with imaging features.
Imaging features correlating with progressive versus static neurological deficits.
Imaging features that could signal potential benefit from surgical treatments.
Prenatal diagnosis of CRS on obstetric ultrasound and fetal MRI: Imaging patterns and importance of antenatal diagnosis.
Associated anomalies and syndromes and necessary additional imaging in CRS cases.
Pitfalls in imaging of CRS.

A complete understanding of CRS including clinico-radiological correlation of symptomatology and imaging appearance in CRS would enable detailed and accurate reporting of these scans. In particular, identifying imaging features that correlate with progressive neurological deficits and those that may benefit from surgical intervention can significantly improve patient management. Read More

Authors:  Krishnan Venkatram , Jaganathan Sriram , Murphy Janice , Choudhary Arabinda , Jayappa Sateesh , Rowell Amy , Charles Glasier , Ramakrishnaiah Raghu

Keywords:  Spine, Spinal Cord, Congenital

Kinariwala Dhara,  Daugherty Reza

Final Pr. ID: Poster #: EDU-078

Although rare, CLOVES syndrome, a PIK3CA-related congenital overgrowth disorder, presents radiologists with opportunity for vital diagnostic and treatment planning. CLOVES syndrome is characterized by Congenital Lipomatous Overgrowth of the trunk, Vascular malformations, Epidermal naevi, and Skeletal and Spinal anomalies. Multimodal imaging findings can help distinguish CLOVES from other overgrowth syndromes such as Proteus syndrome and Klippel-Trenauny syndrome. We present multimodal imaging of four patients with CLOVES syndrome which demonstrate characteristic findings:

- Thoracic lipomatous hyperplasia, a key sign of CLOVES syndrome in which predominantly thoracic lipomatous masses grow in the subcutaneous tissues and invade the pleura, mediastinum, and upper abdomen, often with superficial vascular malformations
- Renal anomalies, including agenesis, hypoplasia, hydronephrosis, and cysts.
- Vascular malformations, including venous, venolymphatic, and lymphatic malformations
- Spinal cord defects, including spina bifida, medullary arteriovenous shunts, and congestive myopathy of the paravertebral venous plexus

Management of CLOVES syndrome focuses on debulking of lipomatous masses, treatment of clinically significant vascular malformations, and medical management of renal and neurologic sequelae. To that end, the role of the radiologist is accurate diagnosis of the syndromic pattern, isolation of the extent of lipomatous masses for pre-operative planning, and identification of renal and spinal cord anomalies.

The purpose of the poster is to:

1. Briefly review the types of congenital overgrowth disorders as demonstrated in various imaging modalities.
2. Focus on characteristic imaging findings of CLOVES syndrome.
3. Review the benefits and disadvantages of various imaging modalities.
4. Identify the most relevant radiologic findings for surgical, interventional and medical management.


Read More

Authors:  Kinariwala Dhara , Daugherty Reza

Keywords:  Congenital, Thoracic, Vascular Malformations

Close Orrie,  Squires Judy

Final Pr. ID: Poster #: EDU-097

There are numerous congenital anomalies of the gastrointestinal tract with varying frequency. Some anomalies are life-threatening and require prompt diagnosis with immediate treatment. Evaluation of patients with these anomalies can be complex, sometimes requiring multiple imaging modalities for accurate diagnoses and timely treatment. It is therefore essential for radiologists to have a firm understanding of specific imaging features. The purpose of this exhibit is to review common and uncommon congenital anomalies of the gastrointestinal tract, including clinical and imaging features as well as treatment options. Read More

Authors:  Close Orrie , Squires Judy

Keywords:  congenital, gastrointestinal, malformations

Prasad Preeti,  Khan Muhammad,  Maller Vijetha

Final Pr. ID: Poster #: EDU-062

Congenital anomalies of lungs are heterogenous group of developmental disorders which vary widely in their clinical manifestations, imaging appearance and pathology, but with a considerable overlap. There has been substantial improvement in our understanding of these lesions due to advances in prenatal and postnatal imaging. The purpose of this educational exhibit is to describe the radiological appearance of various congenital lung abnormalities and facilitate our fellow radiologists to accurately diagnose these anomalies and contribute to the patient management. Read More

Authors:  Prasad Preeti , Khan Muhammad , Maller Vijetha

Keywords:  pulmonary, anomalies, congenital

Funaro Kimberly,  Kucera Jennifer

Final Pr. ID: Poster #: EDU-033

Congenital chest lesions encompass a wide array of pathology with overlapping imaging characteristics. With prenatal ultrasound and MRI, more congenital chest lesions are being detected sooner, and it is important for radiologists to be familiar with their imaging findings for both diagnostic and prognostic purposes. This educational exhibit reviews the spectrum of pediatric congenital chest lesions and their key imaging findings.
Read More

Authors:  Funaro Kimberly , Kucera Jennifer

Keywords:  Chest, Congenital malformations

Marie Eman,  Perez Manuela,  Aquino Michael,  Stimec Jennifer

Final Pr. ID: Poster #: EDU-060

Although rare, fibular hemimelia or congenital fibular deficiency (CFD), is the most common congenital long bone deficiency, with an approximate incidence of 7.4- 20 per 1 million live births. The clinical presentation of CFD represents a broad spectrum of manifestations, ranging from mild fibular deficiency with limb length discrepancy to a significantly short limb with multiple associated foot, ankle and knee deformities.
Traditional FH classification such as Achterman and Kalamchi described the amount of fibular deficiency, which is today known to be unrelated to length discrepancy and foot deformity. Current classifications are based on the associated deformities of the ankle and subtalar joint, as the foot deformity is the main prognostic factor.
Treatment should be tailored for each patient to maximize the lower limb function - this involves predicting the limb length discrepancy and then coming up with a surgical plan to correct these in the fewest number of surgeries spread out as much as possible throughout the child’s growing years, so that by skeletal maturity the child has achieved equal leg length, a functional plantigrade foot, excellent alignment of the hip, knee and ankle and, as needed, a stable knee joint.
Multimodal imaging provides detailed evaluation of the osteochondral and extraosseous malformations. In-utero identification can be accomplished with prenatal ultrasonography. After birth, radiographs often show striking bony anomalies. Detailed information regarding associated crucial cartilaginous, articular, soft tissue, and vascular abnormalities required for preoperative planning necessitates the use of magnetic resonance (MR) imaging.
The purpose of this poster is to: 1) review the various types of osteochondral and extra-osseous abnormalities of CFD as depicted by different imaging modalities, 2) describe the limitations of each of these modalities, 3) outline the image-based classification of CFD, 4) describe the options for treatment, and 5) discuss the post-operative imaging evaluation of CFD. Read More

Authors:  Marie Eman , Perez Manuela , Aquino Michael , Stimec Jennifer

Keywords:  hemimelia, congenital fibular deficiency

Thomas Aby,  Steiner Michael,  Teague Clint

Final Pr. ID: Poster #: EDU-032

Congenital infections or in utero infections results from a wide variety of pathogens. The most common ones are referred by the mnemonic TORCH infections. The manifestations of congenital infections are diverse, ranging from asymptomatic cases to severe, life-threatening conditions. Common presentations include neurological abnormalities, hearing and vision impairments, developmental delays, and growth problems.

This review aims to discuss the radiological manifestations of the TORCH infections with emphasis on the resurgence of syphilis as a significant concern within the realm of congenital infections. And in by doing so, underscore the critical role of radiology in facilitating early detection and enabling timely intervention. Read More

Authors:  Thomas Aby , Steiner Michael , Teague Clint

Keywords:  TORCH, Syphilis, congenital infection

Khumalo Zonah

Final Pr. ID: Poster #: EDU-061

Disorders of the large airways occur frequently in the pediatric population.
Affected pediatric patients typically present with symptoms related to airway obstruction, including stridor, wheezing and dyspnea.
Infants and children are particularly vulnerable to respiratory compromise because of the smaller size of their airways.
As radiologists, we are pretty good at commenting on the lungs, pleural spaces and cardiomediastinal contours, but we often neglect or forget to take a look at the airways.

By definition, the upper airways are the air passages from the nasal cavity to the cervical trachea above the thoracic inlet. The lower airways begin below the thoracic inlet and include the thoracic trachea and bronchi. The spectrum of airways disorders is vast and includes both upper and lower airways anomalies, which can be congenital or acquired.

This educational exhibit will review the imaging findings of congenital lower airways anomalies, both on conventional radiography and cross-sectional imaging. I will also highlight radiographic features suggesting large airway pathology.

The following congenital lower airways anomalies will be reviewed:

Laryngeal cleft
Tracheal bronchus
Congenital tracheal stenosis
Congenitally short trachea
Congenital bronchial stenosis
Tracheobronchomalacia
Bronchial agenesis/hypoplasia/aplasia Read More

Authors:  Khumalo Zonah

Keywords:  congenital, lower, airways

Defendi Larissa,  Yokoo Patricia,  Shoji Hamilton,  Balancin Marcelo,  Chate Rodrigo

Final Pr. ID: Poster #: EDU-079

Congenital lung malformations are a heterogeneous group of developmental disorders whose etiology is not well stablished. Since they represent a spectrum of anomalies, diverse imaging appearance and clinical manifestations can be found. Although rare, their clinical importance is remarkable. Some of them can be a source of important morbidity and mortality in infants and children. Others, however, remain asymptomatic and may be incidentally detected in adulthood. Nowadays, these malformations are usually diagnosed in utero by prenatal imaging. In order to optimize diagnostic accuracy and disease management, it is imperative for radiologists to be familiar with the imaging characteristics of each lesion and the proper methods employed in their evaluation.

The purpose of this exhibit is:
- To describe the postnatal radiological appearance of some congenital lung diseases on conventional radiography, ultrasound (when available) and cross-sectional imaging methods;
- To conduct a brief review of the literature regarding etiology, epidemiology, clinical features and adequate diagnostic approach;
- To highlight the key imaging findings of each abnormality and their differential diagnoses;
- To briefly discuss management and follow-up of each condition.

Illustrative cases from our Radiology Department will be used to demonstrate the following entities:

1. Parenchymal anomalies:
- Lung hypoplasia;
- Congenital bronchial atresia;
- Congenital lobar emphysema;
- Congenital pulmonary airway malformation (previously known as congenital cystic adenomatoid malformation);
- Pulmonary bronchogenic cysts;
- Tracheal bronchus;
- Accessory cardiac bronchus.

2. Vascular anomalies:
- Interruption of a main pulmonary artery;
- Pulmonary artery stenosis;
- Anomalous pulmonary venous drainage.

3. Combined parenchymal and vascular anomalies:
- Bronchopulmonary sequestration;
- Hypogenetic lung (scimitar) syndrome. Read More

Authors:  Defendi Larissa , Yokoo Patricia , Shoji Hamilton , Balancin Marcelo , Chate Rodrigo

Keywords:  Congenital, Vascular, Lung

Plut Domen,  Zupancic Ziva,  Mali Brajovic Senja,  Kljucevsek Tomaz,  Tomazic Mojca,  Glusic Mojca,  Homan Matjaz

Final Pr. ID: Poster #: CR-006

Congenital portosystemic venous shunts (CPVS) are rare vascular abnormalities in which the portal blood drains into a systemic vein. They are results of embryogenetic alterations during the complex development of the portal system in early gestational period. Anatomically they are classified into two groups; extrahepatic and intrahepatic. Extrahepatic shunts were first described in 1793 by Abernethy and are thus also called Abernethy malformations. Presentation of CPVS can be highly variable and consequences severe.

CASE1:
An 8 year old boy was admitted to our hospital due to severe abdominal pain. Doppler ultrasound (US) revealed an abnormal intrahepatic tubular vascular structure. The computed tomography angiography (CTA) confirmed a direct vascular connection between the left portal vein and the dilated left hepatic vein. The right portal vein was small in size, indicating main portal blood flow through the left side bypassing the liver. The treatment for this intrahepatic CPVS was embolization of the shunt. The boy has been well since the procedure.

CASE2:
A routine medical check-up in a 14 year old girl discovered abnormal liver function tests. Abdominal US showed a huge mass in the right lobe of the liver and a big mass of similar structure in the epigastrium. Portal vein was not identified. CTA showed a short main portal vein connected directly to the inferior vena cava, consistent with the Abernethy malformation. The big mass in the epigastrium was shown to be a tumor in the caudate lobe of the liver. Focal nodular hyperplasia (FNH) was considered for liver lesions due to the imaging findings and known association with the Abernethy malformation. Biopsy confirmed the diagnosis. The girl is currently waiting for liver transplantation, as it is the treatment of choice for this extrahepatic CPVS. Read More

Authors:  Plut Domen , Zupancic Ziva , Mali Brajovic Senja , Kljucevsek Tomaz , Tomazic Mojca , Glusic Mojca , Homan Matjaz

Keywords:  Congenital portosystemic venous shunt, Abernethy malformation, Intrahepatic shunt, Extrahepatic shunt

Collins Lee,  Cohen Sara,  Pomeranz Christy,  Jarrett Delma,  Baad Michael,  Akhavan Ardavan,  Kovanlikaya Arzu

Final Pr. ID: Poster #: CR-016

Congenital urethral polyps are a rare benign fibroepithelial lesion, typically arising from the verumontanum. We present a case of a 2 day old neonate undergoing renal ultrasound for follow up of prenatally diagnosed urinary tract dilation. Ultrasound demonstrated severe bilateral central and peripheral caliyectasis with parenchymal thinning, bilateral distal ureterectasis and marked bladder wall thickening. An echogenic soft tissue nodule was visualized at the bladder outlet. Subsequent VCUG showed a rounded filling defect intermittently located in the posterior urethra and bladder neck, suspicious for a diving mobile polyp. Transurethral resection of the polyp was performed. This case highlights an unusual cause of bladder outlet obstruction in neonates which can mimic the presentation and imaging appearance of posterior urethral valves. Read More

Authors:  Collins Lee , Cohen Sara , Pomeranz Christy , Jarrett Delma , Baad Michael , Akhavan Ardavan , Kovanlikaya Arzu

Keywords:  congenital urethral polyp, urinary tract dilation

Hirsig Leslie,  Verma Nupur,  Sharma Priya,  Rajderkar Dhanashree

Final Pr. ID: Poster #: EDU-115

Congenital and childhood findings of pulmonary artery anomalies are uncommon but not infrequently encountered by referral centers. We present by case examples anomalies of pulmonary arterial vasculature, and discuss their clinical presentation, associated cardiothoracic anomalies, and overall prognosis. Read More

Authors:  Hirsig Leslie , Verma Nupur , Sharma Priya , Rajderkar Dhanashree

Keywords:  Pulmonary anamolies, Congenital malformations, Pulmonary Origin, Pulmonary Hypertension, Pulmonary complications

Alkhori Noor

Final Pr. ID: Poster #: EDU-061

The purpose of this educational presentation is to provide a pictorial review to promote recognition and understanding of the embryology, anatomy and spectrum of congenital pulmonary artery anomalies in children Read More

Authors:  Alkhori Noor

Keywords:  Pulmonary artery, Congenital, Pediatric

Farkas Amy,  Patel Niki,  Joyner David

Final Pr. ID: Poster #: EDU-072

Epilepsy can be a progressive and debilitating illness in the pediatric population. There is a large range of congenital conditions that present with seizures in neonatal patients, which are essential for the radiologist to accurately characterize on imaging. Accurately diagnosing the cause of epilepsy can not only allow appropriate treatment, but also provide important information on prognosis and associated abnormalities.

The goal of this educational poster is to provide an overview of different congenital etiologies of epilepsy. This case based review includes congenital malformations of the brain such as focal cortical dysplasia, schizencephaly, heterotopias, hemimegalencephaly, and polymicrogyria. Cases highlighting neurocutaneous conditions associated with epilepsy including tuberous sclerosis and Sturge-Weber are reviewed. Cortical injuries from insults such as congenital infection, hypoxic-ischemic injury, or hemorrhage are also included.

Familiarity with the imaging findings of epilepsy is essential for the radiologist, especially the trainee and those with less experience with pediatric neuroimaging. After reviewing this educational poster, viewers will be able to describe the imaging features of congenital causes of epilepsy and understand the treatment and prognoses of these conditions. Read More

Authors:  Farkas Amy , Patel Niki , Joyner David

Keywords:  Epilepsy, Congenital, Seizures

Huang Jennifer,  Hernanz-schulman Marta,  Luo Yu

Final Pr. ID: Poster #: CR-021

Congenital syphilis (CS) results from transplacental or intrapartum infection by the spirochete bacterium Treponema pallidum. After a nadir in 2005, its incidence has been rising since 2013, currently affecting 48.5 infants per 100,000 live births; this represents a nearly 300% increase since 2015. However, CS remains infrequent, and may not receive appropriate consideration in the differential diagnosis. We report such a case in which the differential diagnosis was not initially entertained. Recognition of the imaging findings of this congenital infection by the pediatric radiologist can be critical in the timely management of this condition.

Case: A 4-month old boy had wrist swelling noted by his grandmother who took him to the local ED where he was found to have a right distal radial fracture. The infant was transferred to our tertiary referral pediatric institution with concern for non-accidental trauma. Skeletal survey at our institution demonstrated multiple variable-shaped and sized lytic lesions in bilateral femurs, tibias, right fibula, bilateral humeri, radii, ulnas, right scapula and multiple vertebrae. Suggested differential diagnosis included metastatic disease, LCH, leukemia or infantile myofibromatosis, which prompted oncological evalution. CS was added late to the differential diagnosis. Further questioning then revealed that patient's mother had had syphilis during pregnancy with unknown treatment history. Further physical examination revealed multiple skin lesions and mucosal ulcers, rash, and blisters. Patient's treponemal Ig G was positive and he was treated with penicillin with RPR(Rapid Plasma Reagin) titer follow-up.

CS has a high fetal or perinatal mortality rate approaching 40%. However, most live infected newborns are asymptomatic. The common clinical presentation includes fever, rash, rhinitis, hepatosplenomegaly, anemia, jaundice and elevated liver enzymes. The common skeletal findings include periosteal reaction, metaphyseal lucent bands, widespread metaphyseal erosions; particularly characteristic (although not specific) is the Wimberger sign, which irefers to the bilateral destruction of the proximal medial tibial metaphyses with sparing of a few medial millimeters (Laval-Jeantet collar). Differential diagnosis of CS includes osteomyelitis, neuroblastoma/metastases, leukemia, infantile fibromatosis, NAT. Characteristic radiographic and clinical lesions will be presented with discussion of differential diagnoses. Read More

Authors:  Huang Jennifer , Hernanz-schulman Marta , Luo Yu

Keywords:  syphilis, Congenital

Siu Navarro Youck Jen,  Poletto Erica,  Malik Archana,  Koenigsberg Robert

Final Pr. ID: Poster #: EDU-053

Congenital tumors represent only 1.5–2% of all pediatric tumors, with a prevalence of 1:12,500 to 1:27,500 live births. Tumors are considered congenital when detected during pregnancy or in the first 3 months of life (1). Nowadays, with more accessible prenatal care and fetal imaging, these tumors can be detected very early during fetal period. Some lesions are benign, while others carry high risk of morbidity and mortality postnatally. As a radiologist, it is important to be familiar with these tumors by recognizing their imaging features, imaging modality work up and differential diagnosis. Doing so, we contribute to a proper imaging evaluation, early diagnosis and management.

The objectives of this educational exhibit are:
-To describe the imaging features of some congenital tumors on different image modalities.
-To recognize and emphasize the key radiologic findings of each tumor and their differential diagnoses.
-To briefly review the literature, including etiology, epidemiology, cytopathology characteristics, diagnosis and treatment.

Pictorial cases from our Radiology Department will be used to describe the imaging features of the following entities:

1) Head/Neck:
● Atypical teratoid/rhabdoid tumor (ATRT)
● Cervical teratoma
● Hemangioma

2) Chest:
● Neuroblastoma
● Cardiac rhabdomyoma

3) Abdomen- Pelvis:
● Hepatic hemangioendothelioma
● Hepatic hemangioma
● Neuroblastoma
● Mesoblastic nephroma
● Sacrococcygeal teratoma

4) Soft tissues:
● Infantile fibrosarcoma

5) Systemic:
● Leukemia Read More

Authors:  Siu Navarro Youck Jen , Poletto Erica , Malik Archana , Koenigsberg Robert

Keywords:  congenital tumor, neonatal tumors