Germaine Colton,  Richards Allyson,  Tocchio Shannon

Final Pr. ID: Poster #: CR-001

Generalized arterial calcification of infancy (GACI) is a rare genetic disorder affecting an infant’s cardiovascular system with additional possible manifestations in the skin, retina, joints and auditory system. This condition carries a high mortality rate, with many infants not surviving past birth. For those who do survive past infancy, there are many challenges to consider when evaluating and treating these patients. There is limited research and imaging available regarding GACI, making the diagnosis and management of these patient even more complex. In this presentation, we review a case of GACI with an emphasis on clinical considerations, imaging findings and options for management.

CONTENT ORGANIZATION:
1) Overview and epidemiology of GACI.
2) Case review of an infant born with GACI.
3) Review pertinent imaging findings in the prenatal and postnatal period.
4) Discuss management and current research for GACI.

SUMMARY:
The major teaching points will include:
1) GACI is extremely rare and often difficult to diagnose.
2) A discussion of essential imaging findings and in which circumstances a radiologist should consider a diagnosis of GACI.
3) Current management considerations and recommendations for follow-up in GACI. Read More

Authors:  Germaine Colton,  Richards Allyson,  Tocchio Shannon

Keywords:  Arterial Stenosis ,  Aorta ,  Neonatal

Priya Sarv,  Nagpal Prashant

Final Pr. ID: Poster #: CR-002

Ectopia cordis is a rare congenital condition where the heart is located outside the chest cavity, often associated with midline defects like omphalocele and Pentalogy of Cantrell. This condition presents significant challenges in surgical management and has a high mortality rate due to complications related to cardiac and associated anomalies.

A newborn delivered at 37 weeks gestation was admitted for surgical management of ectopia cordis and omphalocele. Prenatal imaging suggested Pentalogy of Cantrell. An echocardiogram was performed, but visualization was limited due to the heart’s external position, hindering comprehensive assessment. A follow-up CT angiogram confirmed ectopia cordis with complex cardiac and vascular findings. The left-sided superior vena cava drained into the coronary sinus, and the inferior vena cava was dilated, draining into the right atrium. The right atrium was dilated, while the left atrium was elongated with normal pulmonary venous drainage. A 4 mm atrial septal defect and a possible 2 mm perimembranous ventricular septal defect were noted. The right ventricle appeared normal, but the left ventricle was hypoplastic. The aortic root and ascending aorta were hypoplastic, with Z-scores ranging from -3.20 to -4.90, while the aortic isthmus and descending aorta were within normal limits. The pulmonary arteries were normal in size, and a large PDA was observed.
3D modeling was used to assess the feasibility of surgical repair and chest closure. The heart outside the chest measured 30.65 ml, and the total intrathoracic volume was 107.31 ml. The combined volume of the lungs and pleural effusions totaled 77.69 ml, leaving limited space for the heart within the thoracic cavity. This made the prospect of repositioning the heart into the chest highly challenging, with significant risk of compressing the lungs or other critical structures. The baby passed away during the hospital stay.
This case highlights the role of CTA and 3D modeling in congenital heart disease, illustrating how these tools can assist in evaluating spatial constraints and informing surgical decisions in complex conditions like ectopia cordis. Read More

Authors:  Priya Sarv,  Nagpal Prashant

Keywords:  3D Model ,  Pentalogy Of Cantrell ,  Cardiovascular

Ordonez Alvaro,  Stecher Priscilla,  Rogers Lindsay,  Bhatti Tricia,  Noor Abass

Final Pr. ID: Poster #: CR-006

Single ventricle heart defects (SVHD) refer to a rare and diverse group of severe congenital cardiac abnormalities in which the systemic and pulmonary venous return enter a functionally single ventricular chamber. This condition is typically caused by underdevelopment of an atrioventricular valve and/or a ventricular chamber, leading to a range of complex congenital heart defects. With an incidence of approximately 3 to 5 per 10,000 live births, newborns with SVHD are critically ill, and without medical intervention, the condition is fatal. Advancements in surgical techniques, namely staged palliation and orthotopic heart transplantation, have enabled more patients with SVHD to survive into adulthood. However, despite these improvements, the perinatal period remains tenuous.

We present a five-week-old male infant born at 38 weeks of gestation with a functional SVHD in the form of severe subaortic stenosis, arcade-like mitral valve, left ventricular dilation and dysfunction, and restrictive atrial septum. He received multiple surgical interventions, including atrial septal stenting with pulmonary artery banding and stage I reconstruction with a right Blalock-Thomas-Taussig shunt. Postoperative course was complicated by delayed sternal closure, cardiac arrest, right hemidiaphragm plication, and progressive heart failure. At five weeks, CT angiography showed a functional single ventricle status post Damus-Kaye-Stansel anastomosis, hypoperfusion of the left ventricle myocardium, and pneumoperitoneum. Exploratory laparotomy with segmental bowel resection revealed perforated acute appendicitis and mucosal ulceration of the cecum. Following the procedure, he developed acute hypoxemia and bradycardia. Life-sustaining support was withdrawn. Postmortem examination of the heart was notable for severe aortic stenosis with subaortic obstruction, stenotic mitral valve with arcade-like fibrous plaques, and biventricular hypertrophy. Histopathology of the left ventricle showed significant subendocardial fibrosis without areas of myocyte injury.

Due to the complexities involved in its management, SVHD demands special attention from radiologists. While advancements in medical and surgical care have improved outcomes, ongoing progress depends on a deeper understanding of the factors contributing to ventricular dysfunction and heart failure in this vulnerable population. Read More

Authors:  Ordonez Alvaro,  Stecher Priscilla,  Rogers Lindsay,  Bhatti Tricia,  Noor Abass

Keywords:  Ventricular Dysfunction ,  Cardiac CTA ,  Cardiovascular Disease

Petrosyan Lilit,  Ayvazyan Sona

Final Pr. ID: Poster #: CR-008

Nasopharyngeal carcinoma (NPC) is a rare malignancy in the pediatric population, comprising less than 1% of all pediatric malignancies. NPC typically occurs in older children and adolescents, with the highest incidence between ages 10-19, and there may be a slight male predominance.
A 14-year-old boy presented with a 2-week history of earache, hearing loss, headache, fever, neck pain, and palpable enlarged lymph nodes in the neck. Ultrasound revealed bilateral cervical lymphadenitis. Upon physical examination, the throat appeared hyperemic. Blood tests showed moderately elevated inflammatory markers. Initially, the patient was diagnosed with cervical lymphadenitis, right-sided otitis, and eustachitis. Antibiotic therapy was initiated, resulting in mild improvement; however, the primary symptoms persisted.
Serological testing for Epstein-Barr virus (EBV) was negative. A contrast-enhanced CT scan was performed due to the suspicion of an abscess. The CT revealed a hypervascular mass measuring 4.3x3.3cm in the nasopharynx, extending into the parapharyngeal and retropharyngeal spaces from the right side, significantly narrowing the nasopharyngeal airway. Cervical lymphadenopathy was also noted, particularly on the right side.
Given the imaging findings, a differential diagnosis was considered between lymphoma and nasopharyngeal carcinoma. A pediatric oncology consultation was obtained, and biopsies of both the retropharyngeal mass and cervical lymph nodes were performed. Histopathological analysis confirmed the diagnosis of nasopharyngeal carcinoma.
Nasopharyngeal carcinoma in pediatric patients often presents with non-specific symptoms, contributing to diagnostic delays. Cervical lymphadenopathy is frequently the primary clinical finding, typically manifesting as painless enlarged neck lymph nodes. Other common symptoms include nasal obstruction, nasal discharge, and ear-related issues such as otitis media with effusion, hearing loss, or tinnitus due to eustachian tube dysfunction. In cases presenting with these symptoms, imaging with CT or MRI has an important role for early diagnosis. Read More

Authors:  Petrosyan Lilit,  Ayvazyan Sona

Keywords:  Lymphadenopathy ,  Oncology ,  Paediatric Radiology

Kim Taehoo,  Faingold Ricardo,  Daneman Alan

Final Pr. ID: Poster #: CR-009

A preterm male infant born at 28+2 weeks from twin pregnancy was admitted to Neonatal Intensive Care Unit post urgent cesarean section for placental abruption. Postnatal echocardiogram confirmed multiple cardiac abnormalities including double outlet right ventricle with D-transposition of great arteries, requiring an arterial switch operation. His hospital course was complicated by seizure with previous documentation of left grade 1 germinal matrix hemorrhage and multifocal thromboembolic stroke on brain MRI. At 2 months of life, he required a chest tube insertion during which he had a cardiac arrest requiring venoarterial extracorporeal membrane oxygenation (ECMO).

Head US at 2 hours post-cannulation showed new bilateral symmetrical linear hyperechoic abnormalities in the periventricular supratentorial regions predominantly in the watershed areas, extending peripherally reaching the cortices. Similar new hyperechoic linear foci were seen in the right thalamus. While the clinical diagnosis at this time included watershed infarcts, the pattern of hyperechogenicity with dirty shadowing suggested air emboli, less likely hemorrhage or calcifications.

Follow-up head US at 5 hours post-cannulation was arranged which showed near-complete resolution of the previously seen bilateral parenchymal hyperechoic abnormalities. Thus, we concluded resolving cerebral intravascular air emboli secondary to recent ECMO cannulation, rather than watershed infarcts. No evidence of new evolving infarct nor intracranial hemorrhage was noted.

The patient unfortunately sustained a fulminant septic shock and end-organ injuries despite maximum medical therapies. His family elected to withdraw all life-sustaining therapies the day after his head US.

Systemic air embolism is a rare but potentially fatal complication of ECMO. Rapid recognition is important for reducing morbidity and mortality. Head ultrasound is usually the first brain imaging study performed in neonates for screening. Bilateral periventricular increased echogenicity can be seen in a wide range of different pathologies, including but not limited to periventricular leukomalacia, infarcts, hemorrhages and neonatal encephalitis. This case report highlights important sonographic features distinguishing intracranial air embolism from other confounding diagnosis. Read More

Authors:  Kim Taehoo,  Faingold Ricardo,  Daneman Alan

Keywords:  Brain Ultrasound ,  Neonatal ,  ECMO

Prince Morgan,  Edwards Emily

Final Pr. ID: Poster #: CR-010

Infantile myofibromatosis (IM) is a rare congenital disease of early childhood. Approximately 50% of cases are diagnosed prenatally, and 90% are diagnosed prior to 2 years of age. Solitary IM, multicentric IM without visceral involvement, and generalized IM with cutaneous and visceral involvement have been described, with generalized IM carrying a poor prognosis and high mortality rate. The following reported case demonstrates an unusually high disease burden.
The patient was a monochorionic diamniotic twin fetus found to have a cystic and solid left facial mass on routine prenatal anatomy scan. Initial differential included congenital hemangioma, as well as lymphatic malformation and teratoma. Multiple prenatal ultrasounds and fetal MRI were obtained between gestational age 22w0d and delivery. At 32w2d, a new large paraspinal mass extending from the thoracic spine to the proximal right lower extremity was noted. During retrospective review, mild soft tissue thickening was noted in this region on fetal MRI. At this point, a vascular malformation was favored, with a differential of congenital rhabdomyosarcoma less likely. Ultrasound surveillance for the remainder of the pregnancy showed enlargement of the paraspinal mass with extension into the right retroperitoneal space.
The patient was delivered at 35w0d gestation via cesarean-section. On physical examination, she was found to have multiple masses involving the face, and the paraspinal, buttock, and bilateral lower extremity soft tissues. While atrophic papules were present, there were no overlying skin changes as would be expected with vascular malformations. Given the firmness of the masses and atrophic papules, the diagnosis of infantile myofibromatosis was suspected.
Whole-body MRI with contrast was obtained, demonstrating extensive heterogeneously enhancing soft tissue masses involving the left check, lower back extending into the retroperitoneal space, bilateral gluteal muscle and lower extremities.
The patient’s clinical status declined, and given the poor prognosis, was transitioned to comfort care and expired at age 2 months. Post-mortem autopsy confirmed the diagnosis of generalized infantile myofibromatosis with innumerable myofibromas of the right atrium, ventricles, intercostal muscle, diaphragm, thyroid, lungs, pancreas, adrenal glands, vertebrae, and paraspinal muscles.
The surviving twin is currently 2 years of age and is screened with whole-body MRI annually without evidence of disease. Read More

Authors:  Prince Morgan,  Edwards Emily

Keywords:  Infantile Myofibromatosis ,  Fetal Imaging ,  Congenital

Loken Delaney,  Goncalves Luis,  Patel Mittun

Final Pr. ID: Poster #: CR-011

Prenatal diagnosis of esophageal atresia (EA) remains challenging, with indirect signs such as polyhydramnios, a small or absent stomach bubble, and a dilated upper esophageal pouch often being nonspecific. Only 10-40% of EA cases are diagnosed prenatally. Fetal MRI can overcome ultrasound limitations; however, constraints like motion can hinder evaluation of the esophagus. One approach to improve image quality is super-resolution imaging with slice-to-volume reconstruction (SVR). This technique enhances diagnostic accuracy by generating high-resolution 3D images from standard fetal MRI slices. We present two instances where super-resolution imaging with SVR was employed to accurately diagnose EA and assess the presence or absence tracheoesophageal fistulas (TEF).

Case 1: A 30 3/7-week gestation male fetus was referred for fetal MRI following ultrasonographic findings of a dilated right atrium, a single umbilical artery, a small fetal stomach, and a urinary tract dilation observed at 27 2/7 weeks. Fetal MRI revealed a dilated upper esophageal pouch with a small amount of fluid in the distal esophagus, and a diminutive stomach. 3D-rendered super-resolution images demonstrated a dilated atretic upper esophageal pouch and a TEF originating from the left mainstem bronchus. The application of super-resolution imaging with SVR was crucial to determine the precise origin of the TEF from the left mainstem bronchus, findings that were later confirmed by bronchoscopy and surgery.

Case 2: A 33 2/7-week gestation male fetus was referred for fetal MRI due to polyhydramnios and inability to visualize the stomach on an ultrasound performed at 31 weeks. Fetal MRI confirmed polyhydramnios with a distended, fluid-filled proximal esophagus, consistent with EA. The stomach was decompressed, and the distal esophagus was not visualized. 3D-rendered super-resolution imaging with SVR confirmed the dilated upper esophagus and revealed that it ended 0.5 cm below the level of the carina. The imaging also demonstrated a gap between the distal end of the esophageal pouch and the gastroesophageal junction at the level of the diaphragm, supporting the absence of the distal esophagus.

The use of super-resolution imaging with SVR provided detailed, pre-surgical 3D anatomical depictions in both cases of EA, with and without TEF. This technique demonstrates significant potential for accurately delineating the relevant surgical anatomy, which can improve surgical planning and outcomes. Read More

Authors:  Loken Delaney,  Goncalves Luis,  Patel Mittun

Keywords:  3D Imaging ,  Esophageal Atresia ,  Tracheoesophageal Fistula

Fuentealba Cargill Andrea,  Friesen Richard,  Barker Alex,  Fujiwara Takashi,  Englund Erin,  Park Sungho,  Londono Obregon Camila,  Browne Lorna

Final Pr. ID: Poster #: CR-012

A 22-year-old G2P1 female presented to our institution at 22 weeks for fetal cardiology evaluation of hypoplastic left heart syndrome (HLHS) with mitral stenosis and aortic atresia. Fetal echocardiogram confirmed the diagnosis and suggested a severely restricted atrial septum with a pulmonary venous forward/reverse time-velocity integral ratio (VTI) of 2.7.
At 29 weeks' gestation, she underwent a fetal CMR to evaluate for pulmonary lymphangiectasia and interatrial septum.
Fetal cardiac gating was obtained with an MR-compatible Doppler ultrasound device (Smartsync, Northh Medical) and imaging was performed at 3T.
In addition to the findings of HLHS, findings at fetal CMR included an intact/severely restrictive atrial septum with markedly dilated pulmonary veins. Additionally, there was an anomalous pulmonary vein connecting the right sided pulmonary veins to both the azygos vein and the SVC. 4D flow MRI quantified the distribution of blood flow, demonstrated a similar pulmonary venous forward/reverse flow ratio of 2.4 and visualized the anomalous vessel decompressing the pulmonary venous system into the systemic venous system. There was a segmental pattern of pulmonary lymphangiectasia, present in the right middle lobe and lingula.
Same day fetal echocardiography also confirmed the anatomical findings. The patient was determined not to be a candidate for fetal intervention and following counselling, the family elected for comfort care at delivery. After delivery, the baby did not demonstrate clinical signs of a restrictive atrial septum, despite an atrial septal gradient of 11mmHg by echocardiography, and following re-evaluation, underwent a staged single ventricle palliation. At surgery for stage 1 (Norwood-Sano), the atrial septum was found to be almost intact. The infant continues to do well and currently is status post stage 2 with a superior cavopulmonary anastomosis.
This case demonstrates the use of fetal CMR with an MR compatible doppler ultrasound device in the fetal evaluation of HLHS with a suspected restrictive atrial septum. In this case, fetal CMR with 4D flow was able to calculate a pulmonary venous forward/reverse flow ratio similar to echocardiography and demonstrated the anomalous pulmonary venous drainage pathway, which likely accounted for the absence of the expected severe manifestations of an intact atrial septum in addition to the relatively mild manifestations of pulmonary lymphangiectasia. Read More

Authors:  Fuentealba Cargill Andrea,  Friesen Richard,  Barker Alex,  Fujiwara Takashi,  Englund Erin,  Park Sungho,  Londono Obregon Camila,  Browne Lorna

Keywords:  4D Flow ,  Pulmonary Venous Return ,  Cardiac MRI

Elcic Lana,  Nashawaty Motassem,  Mousa Abeer,  Wermers Joshua

Final Pr. ID: Poster #: CR-014

Twin molar pregnancy featuring a complete hydatidiform mole and a coexisting live fetus is a rare but important condition with unique imaging findings. A 24-year-old pregnant female presented for concern for molar pregnancy on ultrasound at an outside facility. The gestational age of the pregnancy at presentation was 22 weeks and 6 days. MRI was obtained which revealed a single living fetus in cephalic presentation. Along the anterior and left lateral uterine body/fundus was a large lesion with multiple small discrete T2 hyperintense cysts intermixed with more solid T2 isointense components, as well as T2 hypointense, T1 hyperintense foci consistent with hemorrhagic products. The lesion was distinct and did not arise from the placenta. Same day ultrasound revealed a “snowstorm” appearance, consistent with twin molar pregnancy with a complete hydatidiform form and coexistent live fetus. Read More

Authors:  Elcic Lana,  Nashawaty Motassem,  Mousa Abeer,  Wermers Joshua

Keywords:  Ultrasound and MRI ,  Fetal Imaging ,  Pregnancy

Fuentealba Cargill Andrea,  Friesen Richard,  Fujiwara Takashi,  Park Sungho,  Arguello Fletes Gladys,  Englund Erin,  Barker Alex,  Londono Obregon Camila,  Browne Lorna

Final Pr. ID: Poster #: CR-015

A 29-year-old female (G6P4) was referred to our center following identification of thoracoomphalopagus conjoined twins, with fused heart and liver, at 20 weeks of gestation. Fetal echocardiogram and fetal cardiac MR (CMR) were performed at 21 weeks gestation to evaluate potential for post-natal repair.
Fetal CMR was performed at 1.5 Tesla using an MRI compatible fetal doppler ultrasound (DUS) device (smart-sync, Northh imaging) for cardiac gating. Protocol included multiplanar cine SSFP sequences and multiplanar blackblood sequences.
Fetal echocardiography and CMR were used together to understand the complex anatomical arrangements. Each twin had 2 sets of atria (with an interatrial connection) but only a single ventricle. Twin A had a left ventricle, pulmonary atresia and MAPCAs. Twin B had a right ventricle had coarctation of the aorta, bilateral SVCs and partial anomalous pulmonary venous return. After counselling regarding the grave prognosis of both twins, the patient decided to deliver at her local hospital with comfort care.
Teaching Points from this Case
This case of conjoined twins at 21 weeks gestation, is the youngest example of successful clinical DUS fetal CMR. In this case, fetal CMR was used to demonstrate the great vessel anatomy and was fundamental in ascertaining the absence of a path to successful surgical palliation for either twin. Additionally, fetal CMR was used as the primary modality during patient counselling to explain the anomalies. The high degree of diagnostic certainty that the fetal CMR facilitated, allowed the family to avoid the unnecessary emotional and financial expense that relocation for delivery would have incurred and facilitated palliative care at their local center. Read More

Authors:  Fuentealba Cargill Andrea,  Friesen Richard,  Fujiwara Takashi,  Park Sungho,  Arguello Fletes Gladys,  Englund Erin,  Barker Alex,  Londono Obregon Camila,  Browne Lorna

Keywords:  Fetal MRI ,  Cardiac MRI ,  4D Flow

Kazelka Maryam,  Shao Lei,  Mcgraw Marty,  Neville Kucera Jennifer

Final Pr. ID: Poster #: CR-016

Spindle cell sarcomas are a rare and aggressive type of soft-tissue sarcoma. Although rhabdomyosarcomas are the most common childhood sarcoma, the spindle cell type is incredibly rare. A 25-year-old healthy G2P1001 female presents at 34 weeks gestational age with fetal growth restriction of a male fetus. Prenatal ultrasound showed a complex vascular mass exophytic to the distal spine, with a presumed diagnosis of sacrococcygeal teratoma (SCT). For further characterization, a fetal MRI was performed at 35 weeks gestation, which showed a solid appearing mass exophytic to the pelvis and involving the proximal thigh. Many features of the tumor were atypical for sacrococcygeal teratoma: the mass being more homogenous than expected, lacking cystic components that would normally been seen in a SCT, and involving the thigh but without definite involvement of the spine. It was also noted that the normal T1 meconium signal in the rectum was displaced posteriorly by the mass. At that time, an alternative differential diagnosis was suggested: sarcoma including fibrosarcoma or rhabdomyosarcoma, myofibroma, or less likely atypical sacrococcygeal teratoma. The baby was born via C-section at 37 weeks and 1 day gestation. A postnatal MRI showed the mass exophytic to the pelvis with some intrapelvic extension via the inguinal canal. Lack of spine involvement was confirmed. Signal characteristics of the tumor were similar to that of skeletal muscle, with a few focal areas of internal hemorrhage. The tumor had mass effect on multiple structures: deviating and tethering of the rectum to the right and stretching it inferiorly; displacing the anus posteriorly; uplifting the bladder; and abutting the base of the penis with no clear fat planes. Surgical resection was performed when the baby was 6 days old. Pathology evaluation revealed a sarcoma that was diffusely infiltrative with NTRK reactivity by immunohistochemistry. Molecular studies by next-generation sequencing reported TPM3-NTRK1 fusion in the tumor. Pathology was most suggestive of a spindle-cell sarcoma. It is important for the pediatric radiologist to be familiar with fetal soft tissue tumors to help facilitate family counseling and delivery planning. The radiologist should understand imaging features that may help distinguish more rare soft tissue tumors from sacrococcygeal teratomas. Although an exact diagnosis may not be possible prenatally, a multidisciplinary approach ensures the best possible patient outcomes. Read More

Authors:  Kazelka Maryam,  Shao Lei,  Mcgraw Marty,  Neville Kucera Jennifer

Keywords:  Sarcomas ,  Fetal Magnetic Resonance Imaging ,  Soft Tissue Sarcoma

Rana Abhilasha,  Mansfield Kori,  Radder Shrinivas,  Razzaq Sania,  Jayappa Sateesh,  Charles Glasier,  Ramakrishnaiah Raghu,  Murphy Janice

Final Pr. ID: Poster #: CR-017

Meroanencephaly is an extremely rare open neural tube under anencephaly spectrum with midline superior calvarial defect, herniation of disorganised brain parenchyma through the defect with deficient overlying skin. Anencephaly has an incidence of 0.1% on antenatal ultrasound, meroanencephaly is even rarer accounting for 3.4% cases of anencephaly. MRI is the modality of choice for complete assessment of meroanencephaly and antenatal ultrasonographic findings should be confirmed with fetal MRI.
A 35-year-old female presented for fetal MRI after suspicion of occipital encephalocele on antenatal ultrasound. MRI showed microcephaly with thin and abnormally shaped calvarium, a midline calvarial defect in the region of vertex with brain parenchyma protruding through the defect and deficient overlying skin covering. Meningeal covering was difficult to assess due to oligohydroamnios and close apposition of skull to uterine wall. There was absence of ventricular system and lack of normal supratentorial and infratentorial anatomical landmarks. Fetal face was normal. Persistent fetal thoracic kyphotic curvature was observed throughout the examination, spinal cord and spinal canal were normal with no spinal dysraphism. No other anomalies were demonstrated. Read More

Authors:  Rana Abhilasha,  Mansfield Kori,  Radder Shrinivas,  Razzaq Sania,  Jayappa Sateesh,  Charles Glasier,  Ramakrishnaiah Raghu,  Murphy Janice

Keywords:  Fetal Magnetic Resonance Imaging ,  Brain ,  Congenital

Salman Rida

Final Pr. ID: Poster #: CR-020

Early onset colorectal cancer (EOCRC) in children has an incidence of approximately 1 per million, representing only 1% of all pediatric malignancies. Despite being rarer in the pediatric population, pediatric rectal carcinoma is on the rise and has worse outcomes than in adults. A large cohort study identified adenocarcinoma as the most common rectal tumor in pediatric patients and the major cause of death in this category of patients. Most EOCRC tumors are sporadic, with only 20-30% of patients having a hereditary genetic predisposition with Lynch syndrome being the most common hereditary cancer syndrome implicated in the pathogenesis of EOCRC. Pediatric rectal tumors tend to be larger and more likely to have lymph node involvement, and distant metastases.

The subject of this case is a 17-year-old female presenting with rectal bleeding and weight loss. She underwent a colonoscopy which was suggestive of proctitis and biospies were taken. The clinical presentation and scope exam were suggestive of inflammatory bowel disease such as ulcerative colitis. Magnetic resonance enterography (MRE) was ordered to check for small bowel disease involvement. MRE showed circumferential rectal wall thickening and enhancement with corresponding restricted diffusion, associated with multiple polypoid lesions protruding into the perirectal fat and some of which appears inseparable from the adjacent uterus. There were also multiple enlarged perirectal lymph nodes. The biopsies from the colonoscopy demonstrated non specific inflammatory changes. Based on the MRE findings which were suggestive of malignant process, a biopsy of one of the rectal polyps was performed and showed evidence of rectal adenocarcinoma. CT chest, abdomen and pelvis demonstrated metastatic lung nodules and liver lesion. Staging rectal MRI was also performed at an outside adult institution. Patient was then started on chemotherapy. Genetic testing identified a heterozygous germline variant of uncertain significance in the POLD1 gene. Germline POLD1 mutations were historically associated with polyposis of the GI tract and early onset colorectal cancer and there have been increasing reports of patients with mutations in this gene who did not have polyps prior to cancer development.

The aim of this case report is to underscore the importance of exploring this diagnosis when imaging findings do not align with a suspected benign condition. Read More

Authors:  Salman Rida

Keywords:  Rectal Bleeding ,  MR Enterography ,  Cancer

Stecher Priscilla,  Ordonez Alvaro,  Noor Abass

Final Pr. ID: Poster #: CR-023

Klippel-Trenaunay Syndrome (KTS) is a rare cutaneous vascular malformation syndrome involving capillary, venous, and lymphatic malformations often involving a unilateral lower limb. Patients with KTS can also have disease involvement of the gastrointestinal (GI) tract, predisoposing patients to GI bleeding. Here, we present a case of a 15-year-old male with known congenital Klippel-Trenaunay Syndrome involving the left lower extremity presenting with acutely worsening rectal bleeding. The patient presented with two weeks of rectal bleeding, fatigue, and weakness. On initial evaluation, the patient was found to have acute drop in hemoglobin concerning for active GI bleeding. Initial imaging included a tagged red blood cell scan, which demonstrated diffuse increased radiotracer activity along the left hemiabdomen, consistent with active bleed. However, the etiology/source of bleeding at this time could not be determined due to the extensive abdominal involvement. Further evaluation included CT angiography of the abdomen and pelvis, which revealed a large, extensive venous malformation extending throughout the wall of the descending and rectosigmoid colon, with venous malformation extending throughout the left lateral pelvic musculature. Arterial phase imaging demonstrated abnormal enhancement of the mucosa of the descending and rectosigmoid colon, and venous phase imaging demonstrated contrast blushing throughout the descending colon concerning for active bleeding, without clear identifiable source. Due to decline in clinical status and refractory anemia requiring massive transfusion, the patient was evaluated surgically and subsequently underwent emergent colectomy and left lower quadrant ostomy placement. Intraoperative findings demonstrated a massively dilated sigmoid colon with complex tangle of cavernous venous malformations involving approximately two feet of bowel. In setting of a technically challenging operation, the patient’s post-operative course has been complicated by rectal stump dehiscence, multiple pelvic abscesses, and guarded prognosis. In summary, KTS is a rare syndrome involving extensive capillary, lymphatic, and venous malformations, with gastrointestinal involvement predisposing patients to potential life-threating GI bleeding. Here we review a case of a 15-year-old male with KTS presenting with refractory GI bleeding in an extensive colonic vascular malformation necessitating emergent colectomy. Read More

Authors:  Stecher Priscilla,  Ordonez Alvaro,  Noor Abass

Keywords:  Klippel-Trenaunay Syndrome ,  Venous Malformation ,  Rectal Bleeding

Martinez-sicari Jorge,  Eller Madeline,  Mahdi Eman,  Elbich Jeff,  Jones Kathryn,  Mishra Chakradhar,  Vorona Gregory

Final Pr. ID: Poster #: CR-025

Hydatid cysts caused by larval infection with the tapeworm Echinococcus granulosus commonly affect the liver and lungs, although other organ systems may also be involved. Patients may be asymptomatic for years, presenting only when there is cystic rupture. We present the case of a 12-year-old male with no known prior medical history whose family immigrated from Afghanistan to the United States three years earlier. The patient arrived as a transfer to the emergency department (ED) with acute abdominal pain following blunt trauma. While playing soccer, he collided with another player, who landed on his abdomen. Upon arrival to the ED, he was febrile, tachycardic, and endorsed diffuse abdominal tenderness to palpation. He had no recent fevers, cough, congestion, nausea, vomiting, night sweats, or weight loss. He denied recent travel. Initial labs revealed mild leukocytosis with eosinophilia. Liver function tests and lipase were within normal limits. A contrast-enhanced abdominal-pelvic CT revealed a large, complex cystic structure centered in the right hepatic lobe, containing a peripheral membrane-like structure with evidence of internal hemorrhagic components extending into the peritoneum. Further interrogation with ultrasound confirmed the free-floating internal membrane, known as the “water lily” sign, which is highly specific for hydatid cysts. Using the World Health Organization classification, this was categorized as a CE 3A cyst. A follow-up MRI for drainage localization confirmed hemoperitoneum arising from the ruptured hydatid cyst, as well as peritoneal inflammation. We observed the expected MR features of a hydatid cyst with high T2 signal and low T2 internal debris, as well as overall low T1 mixed signal intensity. Ultrasound-guided percutaneous aspiration and alcohol ablation of the hepatic hydatid cyst was performed using catheter drainage. Fluid analysis demonstrated hooklets and protoscolices confirming the presence of Echinococcus spp. Morbidity and mortality related to echinococcosis is usually due to mass effect from enlarging cysts, which may result in organ disruption, or cyst rupture, potentially leading to anaphylaxis. This case highlights the incidental nature of hydatid cysts, which, although relatively easy to treat, often go undiagnosed until discovered by chance. Read More

Authors:  Martinez-sicari Jorge,  Eller Madeline,  Mahdi Eman,  Elbich Jeff,  Jones Kathryn,  Mishra Chakradhar,  Vorona Gregory

Keywords:  Hydatid ,  Abdominal Trauma

Zhang Rebecca

Final Pr. ID: Poster #: CR-026

A 17-year-old female with a history of ulcerative colitis presented to her pediatrician with a palpable and non-painful left breast lump. The patient’s inflammatory bowel disease had been maintained on long-standing infliximab infusions. There was no reported family history of breast or ovarian cancer. Targeted ultrasound of the left breast showed a complex ovoid mass with significant vascularity. Biopsy was notable for extranodal marginal zone lymphoma and the patient underwent a left lumpectomy. Subsequent MRI showed an abnormally enhancing left breast mass, suggestive of residual disease and was treated with radiation. Follow-up breast MRI six months later showed an abnormally enhancing mass in the right breast, and biopsy confirmed marginal zone lymphoma. The decision was made to hold the patient’s infliximab to decrease immunosuppression and allow the patient’s own immune system to clear the lymphoma. Follow up FDG-PET/CT demonstrated a complete metabolic response.

Marginal zone lymphomas (MZLs) describe a group of low-grade non-Hodgkin's lymphomas characterized by the abnormal proliferation of B cells in the marginal zone of lymphoid tissue. Extranodal MZL, or mucosa-associated lymphoid tissue lymphoma, most commonly presents in the stomach. Primary breast lymphomas encompass less than 1% of all non-Hodgkin's lymphomas, and MZLs comprise less than 10% of primary breast lymphomas. The median age of presentation is around 60 years and risk factors remain unclear. Most patients present with a palpable breast mass. Mammography findings are nonspecific but can show a noncalcified round or oval mass with circumscribed or indistinct margins. Ultrasound findings are also nonspecific, typically demonstrating a hypoechoic mass with significant vascularity. Breast MRI can show an abnormally enhancing mass or smaller areas of non-mass enhancement. FDG-PET/CT scans are useful for demonstrating systemic areas of lymphomatous involvement. Core needle or surgical biopsy is required for histologic diagnosis. Primary breast MZL are usually low-grade and respond well to local radiation. Asymptomatic patients are sometimes managed with close observation. This case demonstrates an exceedingly rare case of bilateral breast MZL in an unusual patient age and highlights the typical low-grade nature of disease, as the patient was able to clear her right breast lymphoma after stopping her immunosuppressive agent. Read More

Authors:  Zhang Rebecca

Keywords:  Breast ,  Lymphoma ,  Ultrasound

Mccauley Robert,  Pierre Kevin,  Yekeler Ensar,  Sharma Priya,  Rodero Cardoso Mariana

Final Pr. ID: Poster #: CR-027

Sparganosis is a rare parasitic infection caused by the plerocercoid larvae of Spirometra spp. That is seldom encountered in humans. Clinical presentations are often nonspecific, and imaging findings can mimic other soft tissue lesions and lead to misdiagnosis. We present a case of a 14-year-old female with an abdominal wall lesion initially suspected to be cutaneous endometriosis, which was later diagnosed as sparganosis.

Case Presentation:
A 14-year-old female presented with a progressively enlarging, tender subcutaneous mass located superior and left of the umbilicus. The lesion was associated with intermittent pain, particularly exacerbated during menstruation, which raised clinical suspicion for cutaneous endometriosis. Abdominal MRI revealed a 2.5 cm subcutaneous mass with heterogeneous signal intensity on both T1- and T2-weighted images. Areas of hyperintensity suggested hemorrhagic components, which can be seen with endometriotic implants.

The patient underwent surgical excision of the mass. Intraoperatively, a well-defined subcutaneous lesion was removed without complications. Histopathological examination unexpectedly revealed a cestode consistent with Spirometra spp. (sparganosis), along with mixed inflammation, granulation tissue formation, and focal necrosis. The cystic structure corresponded to the parasite's infection site. Postoperative management included prescribing albendazole therapy following stool sample collection to rule out residual parasitic infection.

Discussion:

Sparganosis is an uncommon parasitic infection in humans that is typically acquired through ingestion of contaminated water or undercooked meat from intermediate hosts. It often presents as a slowly growing subcutaneous mass, which can be mistaken for other soft tissue lesions such as lipomas, cysts, or, as in this case, endometriosis. Imaging findings are nonspecific; MRI may show cystic or solid masses with variable enhancement patterns. In this patient, MRI findings closely resembled cutaneous endometriosis due to the presence of hemorrhagic components within the lesion.

Definitive diagnosis of sparganosis is usually established postoperatively via histopathological identification of the parasite. This case demonstrates the importance of considering parasitic infections in the differential diagnosis of subcutaneous masses. Read More

Authors:  Mccauley Robert,  Pierre Kevin,  Yekeler Ensar,  Sharma Priya,  Rodero Cardoso Mariana

Keywords:  MRI ,  Infection ,  Pediatric Radiology

Beckhorn Catherine,  Lee Rachel,  Cao Joseph

Final Pr. ID: Poster #: CR-028

Background: Granular cell tumors (GCT) are rare Schwann cell-derived soft tissue tumors typically presenting as a solitary, painless nodule in adults in the 4th to 6th decades of life, rarely presenting in children. GCT most commonly originate from gastrointestinal mucosa of the tongue or oral cavity, and are 2-3 times more common in women. While generally benign, approximately 2% of cases may be malignant; therefore, GCTs are typically treated with local surgical control.
Case: A 7-year-old male with sickle cell trait presented to clinic for a painless “pea-sized lump” on his penile shaft, which had been present since infancy but had recently grown larger. Ultrasound demonstrated a 1.8 cm lenticular-shaped mass on the dorsal mid shaft of the penis superficial to the fascial borders of the cavernous cavernosum. There was mild internal vascularity, but no invasion past fascial borders, surrounding soft tissue changes. On MRI, the mass was uniformly T1 iso-intense and T2 slightly hyperintense, with slight postcontrast enhancement. The mass was well-circumscribed, wrapped around the corpus cavernosum without invasion of the tunica albuginea, and exhibited uniform restricted diffusion, calcification, or internal fat. No lymph node involvement was noted on imaging. Surgical resection 8 months later noted a 3 cm mass, which now extended into the glans, with pathology consistent with benign GCT, with positive staining for S-100, CD68, SOX10, and calretinin, Ki-67 of 1%, and negative for SM actin. Due to depth of glans penetration, R2 resection was achieved based on the pediatric urologist’s decision to spare the glans, rather than performing a more aggressive distal penectomy. Post-operative MRI 4 months later demonstrated residual tumor with interval reduction in mass size. Additional investigation of the patient’s past medical history revealed that a benign GCT had been removed from the inside of his lip the previous year which helped support the final histopathologic diagnosis. While multifocal GCTs have been described in genetic syndromes, this patient had not undergone genetic testing to date. Read More

Authors:  Beckhorn Catherine,  Lee Rachel,  Cao Joseph

Keywords:  MRI ,  Genitourinary ,  Soft-Tissue Tumors

Bauman Parker,  Mcdaniel Janice

Final Pr. ID: Poster #: CR-034

A 17-year-old female presents with the chief complaint of recurrent epigastric pain following the diagnosis of median arcuate ligament syndrome (MALS) confirmed via ultrasound duplex and computed tomography angiography. Subsequent laparoscopic median arcuate ligament release and resection of celiac nerve plexus were performed. The patient initially had complete resolution of pain; however, the same type of epigastric pain recurred with no sonographic evidence of recurrent MALS. This prompted the use of a celiac plexus block for diagnostic and therapeutic purposes. Using a one-sided posterior approach, the expected location of the celiac nerve plexus was localized using 3-dimensional cone-beam computed tomography-guided imaging. Using intermittent fluoroscopy with laser and iGuide graphic overlay the needle was incrementally advanced; to confirm the periaortic location of the needle tip a small amount of dilute contract was injected. Then, 80 mg (40mg/mL) of triamcinolone and 20 mL of 0.5% bupivacaine hydrochloride was administered into the periaortic space. The patient had a complete resolution of pain for two weeks. To obtain long-term pain relief, the process was repeated with an injection of 10 mL of 99% ethanol to effectively ablate the celiac nerve plexus, along with 20 mL of bupivacaine liposome. At 1 month and 3 months post-injection, the patient reports a significant reduction in epigastric pain (0-1 out of 10) following the procedure and reports being pleased she had the procedure. This case expands the use of computed tomography-guided celiac plexus ablation by showing effectiveness in reducing epigastric pain in a pediatric patient with a prior MALS diagnosis. Read More

Authors:  Bauman Parker,  Mcdaniel Janice

Keywords:  Cone-Beam CT Guidance ,  Paediatric Radiology ,  Median Arcuate Ligament Syndrome

Germaine Colton,  Richards Allyson,  Tocchio Shannon

Final Pr. ID: Poster #: CR-035

Congenital insensitivity to pain (CIP) is a rare genetic condition in which patients are born with the absence of nociception at birth. These patients do not feel painful or noxious stimuli including pain from infection, inflammation or heat. The inability to feel and respond to painful stimuli leads to repeated injuries and infections, as well as poor wound healing. Children born with CIP are often misdiagnosed as being victims of abuse due to the nature and repetitiveness of their injuries. While rare, it is essential to understand the distinguishing features of CIP and how it differs from non-accidental trauma (NAT). In this case presentation, we provide an overview of the types of fractures and injuries common in patients with CIP, review characteristic imaging findings of CIP and discuss pitfalls specific to radiology.

CONTENT ORGANIZATION:
1) Overview and epidemiology of CIP.
2) Imaging findings characteristic of CIP.
3) Other clinical findings and injuries specific for CIP.
4) Differentiating CIP from NAT.
5) Review follow-up imaging considerations and discuss a radiologist’s role in managing a patient with CIP.

SUMMARY:
1) The major teaching points of this case presentation include:
2) Understanding the clinical presentation and distinguishing imaging findings common in CIP.
3) Recognizing CIP and differentiating it from other types of accidental vs non-accidental trauma is an essential component in patients receiving appropriate care.
4) Providing the correct recommendations for imaging follow-up helps provide improved care to patients with CIP. Read More

Authors:  Germaine Colton,  Richards Allyson,  Tocchio Shannon

Keywords:  Genetics ,  Non-Accidental Trauma ,  Infection

Lee Sean,  Shah Amisha

Final Pr. ID: Poster #: CR-036

Rubinstein-Taybi Syndrome (RTS) and infantile myofibromatosis (IM) are both rare genetic disorders. RTS is marked by craniofacial dysmorphism, short stature, and skeletal abnormalities, while IM usually appears as one or more soft tissue nodules, which can affect bones and visceral organs. We present the rare case of a male newborn diagnosed with both RTS and IM. At birth, the patient showed unusual facial features, small size, and polydactyly. The initial skeletal survey showed multiple lucent lesions in the metaphyseal long bones. A follow-up skeletal survey at four months showed growing lucent lesions, though they had developed benign features of a sclerotic rim and a narrow zone of transition. New bone lesions were seen in the flat bones and spine with vertebra plana deformity. Additionally, calcified soft tissue masses were found. Further characterization by MRI suggested marrow infiltration of the lesions. Due to the higher cancer risk in RTS patients, leukemia, lymphoma, or metastatic neuroblastoma were the main concerns, while Langerhans cell histiocytosis was considered less likely due to the metaphyseal pattern. A bone biopsy at two sites confirmed multicentric myofibroma, consistent with IM. Genetic testing found a PDGFRB mutation linked to IM. The patient’s mother tested positive for the same mutation and recalled skin involvement as an infant. The patient tested positive for a de novo CREBBP mutation linked to RTS. These findings suggested autosomal dominant inheritance of IM, while RTS arose sporadically. A whole-body MRI ruled out visceral involvement, a good prognostic factor for IM. The patient received chemotherapy and responded well until it was stopped due to adverse effects. At age 8, he had surgery for a tethered cord, a known complication of RTS. Shortly after, a new lucent lesion, likely a recurrent myofibroma in the right femoral neck, was incidentally found on an abdominal X-ray obtained for pain. The patient is currently under clinical and imaging surveillance. No reported case has yet shown the coexistence of RTS and IM, and there is no known link between the two. This case highlights the importance of considering IM and other rare conditions in the differential diagnosis of multiple lucent bone lesions. A coexisting syndrome can complicate the picture and delay diagnosis. Imaging, biopsy, and genetic testing were key in diagnosing and managing this case. Read More

Authors:  Lee Sean,  Shah Amisha

Keywords:  Bone Tumor ,  Rubenstein-Taybi Syndrome ,  Infantile Myofibromatosis

Rullan Varela Valeria,  Woodruff Ronald,  Johnstone Lindsey,  Sarma Asha,  Leschied Jessica

Final Pr. ID: Poster #: CR-037

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

Authors:  Rullan Varela Valeria,  Woodruff Ronald,  Johnstone Lindsey,  Sarma Asha,  Leschied Jessica

Keywords:  Musculoskeletal ,  Wrist Ultrasound ,  Neurosonogram

Lee Rachel,  Beckhorn Catherine,  Cao Joseph

Final Pr. ID: Poster #: CR-038

Keratin-positive giant cell-rich tumor is a very rare subset of giant cell-rich tumors characterized by keratin-positive cells and HMGA2::NCOR2 gene fusion. First described in 2021, fewer than 40 cases have been reported in the English literature. Reported cases have shown a strong predilection for females in their 20s-30s and occur in both soft tissue and bone. The youngest reported case thus far has been a 13-year-old female.

A 4-year-old previously healthy male presented to clinic with leg pain and a limp after falling on his right leg. Initial X-ray showed a lytic lesion on the right proximal tibia. Follow up MRI showed a 2 x 2.5 x 4.3 cm solid lesion in the proximal tibial metaphysis extending into the epiphysis. The mass was T1 and T2 hyperintense and demonstrated homogenous enhancement after contrast. No periostitis was noted on radiograph and no subperiosteal collection was present. No soft tissue component was identified. CT chest, abdomen, pelvis was ordered to rule out other sites of disease and showed multi-station lymphadenopathy throughout the right groin. Biopsy revealed tumor cells negative for H3G34W and H3K36M histone markers, specific for giant cell tumor of bone and chondroblastoma respectively. The cells were focally positive for AE1/AE3, a stain for keratin. Next-generation sequencing revealed an HMGA2::NCOR2 fusion confirming the diagnosis of keratin-positive giant cell-rich tumor. He underwent complete curettage of the lesion as well as excision of 2 inguinal lymph nodes that were negative for disease. Read More

Authors:  Lee Rachel,  Beckhorn Catherine,  Cao Joseph

Keywords:  Bone Tumor ,  Musculoskeletal

Martinez-sicari Jorge,  Shahid Mehreen,  Mahdi Eman,  Canissario Ryan,  Richard Hope,  Sisler India,  Jones Kathryn,  Mishra Chakradhar,  Vorona Gregory

Final Pr. ID: Poster #: CR-042

Fanconi anemia (FA) is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, physical abnormalities, and a heightened cancer risk. A severe neurological complication, Fanconi anemia neuroinflammatory syndrome (FANS), involves progressive neuroinflammation and brain lesions, resulting in cognitive and motor impairments. We present the case of a 12-year-old male with FANS and its neuroimaging findings over an 8-year period.

The patient, with a history of stem cell transplant and graft-versus-host disease, initially presented with developmental delays at age 10, progressing to slurred speech and diplopia by age 12. Serial brain MRIs from 2016 to 2024 revealed the evolving features of FANS, but initially posed significant diagnostic challenges due to the rarity of this entity.

Key imaging findings included multiple scattered foci of abnormal T2/FLAIR hyperintensity and enhancement throughout the brain, progressing to numerous ring-enhancing lesions with associated calcifications. Late-stage imaging showed large destructive lesions with significant mass effect, including a 3.6 cm rim-enhancing lesion causing 1.2 cm midline shift and ventricular entrapment.

Early radiological differentials included infection, neurological manifestations of chronic graft-versus-host disease, cerebrovascular disease, and even aggressive brain tumors.

Biopsy revealed necro-inflammation, with tumor analysis identifying a significant ESR1/CCDC170 gene variant. The clinical course was marked by relentless progression including cognitive decline, weakness, imbalance, and seizures. Multiple immunosuppressive therapies were attempted with limited success.

This case emphasizes the importance of recognizing FANS imaging patterns, which progress from small enhancing lesions to large, destructive ones. The distinctive imaging features, combined with a history of Fanconi anemia, should prompt consideration of FANS in the differential diagnosis, even when other causes may seem more likely.

Awareness of FANS as a complication in Fanconi anemia patients is crucial for timely diagnosis and management. Emphasis needs to be placed on researching effective treatments, as current options have limited success in halting progression. Recognizing FANS is essential to prevent unnecessary and harmful treatments for misdiagnosed conditions. Read More

Authors:  Martinez-sicari Jorge,  Shahid Mehreen,  Mahdi Eman,  Canissario Ryan,  Richard Hope,  Sisler India,  Jones Kathryn,  Mishra Chakradhar,  Vorona Gregory

Keywords:  Genetics ,  Brain ,  Inflammation

Mirza Eushaa,  Aziz Sumaiya,  Ajilogba Kaseem,  Delf Jonathan,  Dickinson Fiona,  Samanta Rajib,  Patel Ushma,  Swienton David,  Sharaf Ahmed

Final Pr. ID: Poster #: CR-044

Case:

We present the case of a 3 year old male patient who presented to ED with right sided weakness and facial drooling post fall with head injury. On examination, there was residual right sided weakness with poor eye contact and communicative difficulties.

Urgent CT Head revealed a focal, well defined hypo-attenuation in the left basal ganglia (Figure 1).

Subsequent MRI Head and Angiogram demonstrated an anomalous origin of the left middle cerebral artery (MCA) and lenticulostriate arteries on Time of Flight (TOF) angiographic images. The left internal cerebral artery (ICA) gives off the left posterior communicating artery which loops back on it giving off a very small MCA and forming a large, odd looking A1 anterior cerebral artery (ACA) (Figure 2). The left lenticulostriate arteries arise on the horizontal segment of the loop which forms the A1 ACA (Figure 2).

The left perforator territory demonstrates high T2/FLAIR signal with diffusion restriction involving the left putamen and upper aspect of the left caudate nucleus as seen on CT (Figure 3).

The patient was initiated on antiplatelet therapy with aspirin. He subsequently represented two months later with transient left sided weakness. Neurological examination was grossly normal apart from a slow gate.

Repeat MRI demonstrated reduction in the extent of the previous T2 signal abnormality within the left putamen consistent with expected evolution of previous infarct (Figure 4).

Dual antiplatelet therapy with the addition of clopidogrel was initiated. Subsequent clinical follow up found improvement in his verbal ability and eye contact.

Discussion:

There are numerous reported anatomical variants involving the MCA, such as a duplicated, accessory and fenestration, which are related to the embryological development of the MCA (1-3). Recently, twig-like MCA’s have been reported which are likely thought to be a secondary consequence to developmental stenosis of the proximal MCA (4). There are currently no case reports describing the anomalous distal ICA, ACA and MCA findings such as those in our case report. We hypothesise that the patient clinical symptoms are likely due to the anomalous origin and tortuosity of the lenticulostriate arteries resulting in hypoperfusion and ischaemia (5). Clinical improvement was demonstrated after initiating antiplatelet therapy. Moreover, interestingly despite the small calibre MCA there was no evidence of ischaemia within this territory. Read More

Authors:  Mirza Eushaa,  Aziz Sumaiya,  Ajilogba Kaseem,  Delf Jonathan,  Dickinson Fiona,  Samanta Rajib,  Patel Ushma,  Swienton David,  Sharaf Ahmed

Keywords:  Pediatric Neuroradiology ,  Pediatric Stroke

Kuehne Alexander,  Chen Danling,  Hwang James,  Ehrlich Lauren,  Lisse Sean

Final Pr. ID: Poster #: CR-046

Meningoceles in the cranium occur when an osseous defect in the skull base allows for the protrusion or herniation of the meninges into the extracranial compartment. Meningoceles vary in severity and may be asymptomatic or complicated by meningitis, brain abscess, pneumocephalus, or cerebrospinal fluid leak. Meningoceles can be congenital, traumatic, iatrogenic (such as in sinus or craniofacial surgery), spontaneous (due to increased intracranial pressure) or idiopathic. The most common sites of meningoceles in the skull base are the cribriform plate, sphenoid sinus, perisellar region, and tegmen tympani or mastoideum. Accurate and timely detection is essential for avoiding complications of meningoceles. Localization of the site of the meningoceles and assessment of their size and composition is accomplished through a variety of imaging techniques, such as with CT or MR myelography. Surgical repair of meningoceles may be accomplished through both open and endoscopic approaches.
A 2-year-old male patient with a past medical history of febrile seizures and postinfectious hydrocephalus requiring ventriculoperitoneal shunt placement and multiple shunt revisions initially presented with emesis and lethargy concerning for shunt malfunction. MRI showed a fluid-signal intensity located adjacent to the petrous portion of the right temporal bone, extending caudally to the right upper neck, which raised concern for cerebrospinal fluid (CSF) leak. Lumbar puncture was notable for an elevated CSF opening pressure of 40 cm H2O. CT myelogram confirmed a small (7mm) meningocele protruding through an osseous defect in the right jugular foramen, which completely opacified with intrathecally-injected contrast. Delayed images obtained following two hours further demonstrated subtle contrast enhancement surrounding the right jugular vein in the upper neck, raising concern for a slow CSF leak from the meningocele. Due to elevated CSF opening pressure, shunt malfunction was theorized to be the cause of the patient’s emesis and lethargy. Shunt was revised and patient was subsequently able to be discharged. Repeat follow up imaging demonstrated stabile size of patient’s meningocele. Due to small size, and resolution of patient’s symptoms following shunt revision, patient’s meningocele will be followed with recurrent MR imaging. Read More

Authors:  Kuehne Alexander,  Chen Danling,  Hwang James,  Ehrlich Lauren,  Lisse Sean

Keywords:  CSF ,  MRI ,  Neuroradiology

Holz Emily,  Fisher Paul

Final Pr. ID: Poster #: CR-050

Neurocysticercosis (NCC) is the result of infection of the nervous system by the larvae of Taenia solium—the pork tapeworm. It is endemic in regions of Latin America, Sub-Saharan Africa, and Asia, however, is also of concern in non-endemic regions as a result of immigration and travel to endemic regions. NCC is a major cause of seizures, however disease presentation varies based on the number, growth, and location of lesions as well as the inflammatory response of the host. In addition to seizures, other common clinical manifestations are headaches, intracranial hypertension, focal deficits, and altered mental status. Case Presentation: A 13-year old female with a history of intermittent headaches presented to the emergency department with severe headache, nausea and vomiting, and altered mental status. Upon evaluation, the patient had a Glasgow Coma Scale score of 8, indicative of a severe level of brain injury. A brain MRI revealed a non-enhancing “cystic” ovoid lesion filling much of the third ventricle. A subsequent CT revealed a scolex (anterior end of the tapeworm) with obstructive hydrocephalus at the level of the third ventricle and cerebral aqueduct. NCC has 3 stages—vesicular, colloidal or granular, and calcified—each with characteristic findings on imaging. In the vesicular stage, imaging shows cysts with central hyperdensity on CT representing the scolex. In the colloidal or granular stage, imaging shows cysts with surrounding enhancement and edema, and in the calcified stage, calcifications are visible. In this case, the patient appeared to be at the end of the vesicular stage, transitioning into the colloidal or granular stage as there was evidence of a scolex on CT and a cystic lesion with interstitial edema, however it was non-enhancing. Additionally, in NCC parenchymal lesions are most common, and with antiparasitic treatment, have a generally benign prognosis. Extraparenchymal disease, which includes ventricular cysts as seen in this patient, is less common and is not benign, often resulting in obstructive hydrocephalus, also evident in this patient, and may even result in death. Based on imaging findings, the patient underwent fenestration of the cyst and biopsy, which revealed fragments of a parasitic organism. NCC can result in life-threatening consequences including hydrocephalus, herniation, and edema, so while treatment generally consists of anti-inflammatory and antiparasitic medications, surgery may be indicated in some patients. Read More

Authors:  Holz Emily,  Fisher Paul

Keywords:  Pediatric Neuroradiology ,  Hydrocephalus ,  Brain MRI

Shukla Neal,  Kim Joseph,  Hammer Matthew,  Tu Long,  Rao Balaji

Final Pr. ID: Poster #: CR-051

Reversible cerebral vasoconstriction syndrome (RCVS) is commonly seen in middle-aged patients. This syndrome is characterized by thunderclap headaches which may not be apparent or recognized in pediatric patients, posing a challenge in diagnosis. Several medications have been associated with the development of RCVS, though they are not reliably known to cause it: highlighting the potential influence of other underlying predisposing factors. RCVS is self-limiting with treatment focused on reducing the degree of vasoconstriction.
A 7-year-old male patient with a medical history of B-cell acute lymphoblastic lymphoma, currently undergoing treatment with intrathecal methotrexate, cytarabine, and IV vincristine was admitted to our institution for acute perforated appendicitis. On the second day of hospitalization, the patient developed left arm weakness which prompted evaluation with MRI/MRA brain. Imaging revealed restricted diffusion in the left superior frontal gyrus with corresponding low ADC values and mild T2/FLAIR signal suggestive of an acute ischemic infarct. Vascular imaging showed a beaded appearance of the supraclinoid ICA, ACA and MCA bilaterally. Transcranial doppler study of the arteries confirmed elevated velocities consistent with multifocal stenoses. Initial differential diagnoses included acute ischemic infarct secondary to vasculitis with infectious causes considered due to the patient’s neutropenic state. Although, there was no evidence of vasculitis in other regions of the body and a primary CNS vasculitis typically presents with bilateral infarcts. Methotrexate leukoencephalopathy was also considered, although it typically affects white matter, primarily in the centrum semiovale. Posterior reversible encephalopathy syndrome was another possibility, but the absence of cerebral microhemorrhages argued against this. Given the vascular and ischemic findings, RCVS was ultimately suspected. A follow-up MRI performed several days later revealed a new infarct in the right frontal lobe. Notably, repeat CTA imaging showed complete resolution of the arterial stenoses, further supporting the diagnosis of RCVS.
This case illustrates the diagnostic challenge of RCVS in a pediatric patient with comorbidities that initially pointed towards a neoplastic or infectious etiology. Although not performed in the presented case, vessel wall MRI may be a useful tool in differentiating between arterial narrowing from vasculitis versus RCVS or atherosclerosis. Read More

Authors:  Shukla Neal,  Kim Joseph,  Hammer Matthew,  Tu Long,  Rao Balaji

Keywords:  RCVS ,  Acute Lymphoblastic Leukemia ,  Neuroradiology

Ayvazyan Sona,  Petrosyan Lilit

Final Pr. ID: Poster #: CR-052

Pediatric stroke is a relatively rare disease, but remains one of the most common causes of death in childhood.
A higher homocysteine level raises the risk of vascular disease, including stroke.
In the setting of heavy alcohol consumption, the risk for all major types of strokes is increased, especially those of ischemic etiology.
A 17-year-old boy who had used a large amount of cigarettes and alcohol the previous evening, presented to our clinic. Upon admission, the patient’s condition was critical, with impaired consciousness. Left-sided facial nerve paresis and left-sided hemiparesis were observed. An CT examination of the brain was performed, no gross changes were found and was indicates an urgent MRI. On MRI there was irregular configuration of the dorsal posterior limb of the internal capsule and ventrolateral parts of the right thalamus, with a focus of diffusion restriction and increased MR signal intensity on T2-weighted FLAIR sequences. MR findings are consistent with an acute ischemic stroke in the territory of the right anterior choroidal artery. No neurological deficits were detected after treatment.
Alcohol intoxication and hyperhomocysteinemia are significant risk factors for ischemia.
The combination of hyperhomocysteinemia with alcohol and nicotine abuse presents an even higher and more persistent risk for ischemia. Read More

Authors:  Ayvazyan Sona,  Petrosyan Lilit

Keywords:  Stroke ,  Acute ,  Brain

Mousa Abeer,  Fox Lauren,  Simmons Curtis

Final Pr. ID: Poster #: CR-058

We present a case of an 11-year-old male with history of pars planitis (intermediate uveitis) on monthly infliximab and weekly methotrexate. The patient developed diffuse lymphadenopathy, predominantly in the head and neck region, raising suspicion for malignancy. CT of the neck and chest demonstrated enlarged cervical, upper mediastinal , and bilateral axillary lymph nodes. PET/CT confirmed prominent FDG uptake in these lymph nodes. A lymph node biopsy of a parotid lymph node confirmed Epstein Barr virus-positive polymorphic lymphoproliferative disorder in the setting of immune deficiency/dysregulation. Follow up PET/CT 2 months later after discontinuation of immunosuppressive therapy demonstrated significant improvement in size and radiotracer uptake of the enlarged lymph nodes. However within this time frame, the patient’s uveitis worsened. The patient is being followed by ophthalmology to explore other localized treatment options including steroid eye drops and steroid implants.
The majority of described findings in the radiology literature encompasses lymphoproliferative disorders in the setting of transplant (post-transplant lymphoproliferative disorder (PTLD)) or primary immunodeficiency. However, there is little in the way of lymphoproliferative disorders associated with immunosuppressive therapy. Most cases reported in the literature involve methotrexate use in adults with rheumatoid arthritis. Prior to 2022, this entity held a WHO classification entitled “other iatrogenic immunodeficiency-associated lymphoproliferative disorders (OII-LPD)”. Following a 2022 WHO reclassification, both PTLD and OII-LPD are encompassed under the classification of “lymphoid proliferations and lymphomas associated with immune deficiency and dysregulation". Further research on imaging of OII-LPD would add to the existing literature and increase awareness of such an entity in the setting of immunosuppressive therapy. Read More

Authors:  Mousa Abeer,  Fox Lauren,  Simmons Curtis

Keywords:  Lymphoproliferative ,  PTLD ,  Lymphadenopathy