Binette Maliyan,  Dean Haley,  Barton Katherine

Final Pr. ID: Poster #: CR-007

Ultrasound is frequently utilized to screen for intracranial pathologies in neonates, including intracranial hemorrhage. There are several risk factors that predispose to neonatal intracranial hemorrhage including prematurity and bleeding diathesis (Tan 2018). Intracranial hemorrhage typically appears hyperechoic on ultrasound, although very rare cases of hypoechoic hemorrhage have been reported in patients receiving anticoagulation in the setting of ECMO (Bulas 1991, Svrckova 2020). Here we present a case of multifocal hypoechoic acute intracranial hemorrhages in a premature neonate with thrombocytopenia of unclear etiology. Though a connection between anticoagulation and echogenicity of hemorrhage has not been firmly established, this raises the question of how coagulation status can affect the ultrasound characteristics of hemorrhage.

Our patient is a premature female infant born at 35w1d via uncomplicated cesarean delivery to a 30-year-old G1P0 mother with routine prenatal care. Gestation was complicated by intrauterine growth restriction. Mother also had Covid-19 during the pregnancy and exposure to Zika virus without confirmed infection. After birth, APGAR scores were 8 and 8. A head ultrasound performed on the first day of life was unremarkable. Initial labs were notable for a platelet count of 13k requiring seven platelet transfusions. On day of life 12 the infant was found to have an increasing head circumference with full fontanelles. Follow up head ultrasound at this time revealed multifocal hypoechoic lesions in the brain parenchyma but no hyperechoic hemorrhage. On MRI obtained the same day those hypoechoic foci demonstrated heterogenous T1 isointensity and increased susceptibility consistent with intraparenchymal hemorrhage. Platelets at that time were 69k. Delayed head ultrasound 5 weeks later revealed significant cystic encephalomalacia with parenchymal volume loss and ventriculomegaly. Read More

Authors:  Binette Maliyan,  Dean Haley,  Barton Katherine

Keywords:  Neurosonography ,  Hemorrhage

Pelizzari Mario,  Montalvetti Pablo

Final Pr. ID: Poster #: CR-009

Case Presentation
A 28-year-old patient, undergoing her second pregnancy, with no pathological or toxic clinical history, presented with an intra-abdominal fetal mass identified during 34-week gestational age routine ultrasound. A Fetal Magnetic Resonance Imaging (fMRI) was performed, revealing findings compatible with Fetus in Fetu (FiF).

Findings
The ultrasound examination revealed an intraperitoneal mass in the middle of the fetal abdomen, solid, heterogeneous, with fatty areas and calcified structures resembling long bones. Vascularized by the superior mesenteric artery and displaced abdominal organs without invading them. These findings were confirmed later with fMRI.
Birth was delivered via cesarean section at 38 weeks. Due to suspicion of FiF vs. Teratoma (Tt), tumor markers were tested with negative results. During follow-up, FiF growing was observed, leading to the decision to surgically remove the tumor at two months of age. Anatomopathologic examination confirmed the diagnosis of FiF. A computed tomography of the surgical specimen revealed characteristic FiF signs.

Discussion
With an estimated incidence of 1 in 500,000 births, FiF is a condition in which, due to abnormal embryogenesis in a monochorionic diamniotic pregnancy, one fetus grows abnormally within the body of the other. The diagnosis is based on imaging findings and is characterized by the presence of a separate vertebral column and the development of organs around this axis, indicating an early stage of fetal development. These features distinguish it from a highly differentiated Teratoma.
Although it is a benign condition, the mass can affect surrounding structures. Prenatal diagnosis is more feasible nowadays, and suspicion should arise when an encapsulated cystic mass with calcified components is identified.

Conclusion
Imaging plays a crucial role in the diagnosis due to its similarity to a teratoma, which could have malignant potential. Surgical treatment is required, and early detection allows for a favorable prognosis. Read More

Authors:  Pelizzari Mario,  Montalvetti Pablo

Keywords:  Fetal MRI ,  Fetus in fetu

Law Emily,  Luo Yu

Final Pr. ID: Poster #: CR-011

Congenital Intrathoracic Stomach (CITS) is a rare and challenging congenital anomaly, particularly when associated with a very short esophagus and gastric outlet atresia. We present a case of a neonate born at 32 weeks of gestation with complex left Congenital Diaphragmatic Hernia (CDH), where intra-operative findings revealed an intrathoracic stomach that could not be reduced to the abdomen. Post-operative fluoroscopic images demonstrated an irregular stomach in the chest, extending from the thoracic inlet to the diaphragm. The proximal esophagus was exceptionally short, measuring approximately 1 cm in length, and there was a short 0.7 cm long blind-ending tubular structure or outpouching at the inferior end of the stomach, suggestive of pyloric or duodenal atresia. This case report describes the clinical presentation, radiographic findings, and surgical management of this rare anomaly. Read More

Authors:  Law Emily,  Luo Yu

Keywords:  Intrathoracic stomach ,  CDH ,  Atresia

Wang Megan,  Snyder Elizabeth,  Schulman Marta,  Luo Yu

Final Pr. ID: Poster #: CR-012

Gastric teratomas are exceedingly rare tumors derived from one or more germ layers. These tumors predominantly occur in sacrococcygeal-gonadal locations but can occasionally manifest in midline regions such as the mediastinum, retroperitoneum, and the head/neck.

Case Presentation: A 1-day-old male infant, born at 36 weeks and 4 days via a cesarean section due to multiple fetal anomalies, including large for gestational age (LGA), new-onset polyhydramnios and significant bilateral hydroceles, presented with a significantly distended and firm abdomen. The initial X-ray revealed extensive amorphous calcifications throughout the abdomen, suggestive of meconium peritonitis. However, a subsequent ultrasound examination revealed a large heterogeneous mass in the upper and mid abdomen, characterized by calcifications, cysts, and soft tissue components. In retrospect, the large mass was detected on the prenatal sonographic exam but misinterpreted as echogenic bowel loops. A subsequent CT scan unveiled a 13.4 x 7.6 x 9.9 cm mass originating from the gastric wall, extending into the gastric lumen as well as the peritoneal cavity.
Interestingly, endoscopy revealed a normal mucosa covering the mass. The tumor was resected, including partial gastrectomy, and histology confirmed the presence of native gastric mucosa and an underlying mass composed of endodermal, ectodermal, and mesodermal tissues, consistent with mature teratomas.

This case report presents a large mature teratoma within the gastric wall, exhibiting exophytic and endoluminal growth, which led to polyhydramnios, abdominal distention, and the development of large hydroceles in the newborn, feeding difficulty. Additionally, it emphasizes the importance of thorough prenatal and postnatal imaging evaluations for timely diagnosis and management. Read More

Authors:  Wang Megan,  Snyder Elizabeth,  Schulman Marta,  Luo Yu

Keywords:  Gastric teratoma ,  computed tomography

Davis Laura,  Morales-tisnés Tatiana,  Lerebo Wondwossen,  Barz Leahy Allison,  Ntoulia Aikaterini,  Dennis Rebecca,  Anupindi Sudha,  Darge Kassa,  Back Susan

Final Pr. ID: Poster #: CR-013

Infantile myofibromatosis is rare. The generalized form affects the integument and musculoskeletal system as well as multiple visceral organs and can impair organ function, thus requiring prompt diagnosis and treatment at an early age. As a disease that presents before the age of two years, minimizing use of CT and MRI is imperative to reduce radiation and gadolinium contrast use, respectively.
We present a case of a neonate in whom multiple cutaneous and an appendiceal lesion raised the suspicion of infantile myofibromatosis. Multiple liver lesions were seen on gray-scale ultrasound. On contrast-enhanced ultrasound (CEUS), there were multiple, differently-enhancing liver lesions, a finding which was confirmed on MRI with hepatocyte specific contrast. These were all thought to represent myofibromas with complete involution following low dose chemotherapy. Read More

Authors:  Davis Laura,  Morales-tisnés Tatiana,  Lerebo Wondwossen,  Barz Leahy Allison,  Ntoulia Aikaterini,  Dennis Rebecca,  Anupindi Sudha,  Darge Kassa,  Back Susan

Keywords:  myofibromatosis ,  contrast ultrasound ,  CEUS

Jin Annie,  Bao Shashan

Final Pr. ID: Poster #: CR-015

Rhabdomyosarcoma is a common pediatric soft tissue cancer with about 31% of cases in the urinary tract and 25% of cases in the head and neck. Although rhabdomyosarcomas are common, primary intrahepatic rhabdomyosarcomas are very rare and have a poor prognosis. In fact, there have only been 20 reported cases from 1956 through 2017, and the mean survival time of 9.25 months.

A 3-year-old male with a history of constipation presented with a 3-days of low-grade fevers of 99-100 F, periumbilical pain, and anorexia. On physical exam, there was a palpable, tender RUQ mass. Labs showed an elevated ALT of 159, AST of 179, and alkaline phosphatase of 748. A radiograph of the abdomen showed a soft tissue opacity in the right upper quadrant which displaced the large and small bowel loops. Further imaging included an ultrasound, CT, and MRI. The ultrasound confirmed a large mostly solid mass in the right hepatic lobe. CT imaging showed a large heterogeneous liver mass measuring 10.5 x 10.0 x 14.0 cm. The mass extended superiorly to the dome of the liver, involved the caudate lobe, and compressed the IVC. An indeterminate lucency of the right femoral neck was also noted. A follow up MRI showed that the liver mass displaced the hepatic veins, main portal vein and right portal vein. Additionally, innumerable lesions were found on the axial skeleton and periportal lymphadenopathy was seen suggesting metastasis. PET scan further confirmed bony metastasis of the right femur. Initially, hepatoblastoma was highest on the differential. However, liver wedge biopsy showed myxoid spindle cell areas and small round blue cell areas. These findings favored the diagnosis of rhabdomyosarcoma as opposed to hepatoblastoma which would have had an epithelial component. Bone marrow biopsy further confirmed metastasis. As a result of this diagnosis, the patient was started on vincristine, dactinomycin, cyclophosphamide. Pain was controlled with morphine and acetaminophen. Nausea was controlled with Ativan, Zofran, Reglan, and Benadryl. The patient’s abdominal distension and constipation responded well to a stool regimen and multiple enemas. The patient was discharged in stable condition with oncology follow up.

Hepatic rhabdomyosarcoma is a rare malignancy, and early diagnosis and treatment has been beneficial in prolongation of mean survival time. Diagnostic imaging modalities and pathology findings are an essential part of the work up and can be used to guide the treatment and management. Read More

Authors:  Jin Annie,  Bao Shashan

Keywords:  Hepatic Rhabdomyosarcoma ,  Spindle Cell ,  Diagnostic Imaging

Burns Madisen,  Cao Joseph

Final Pr. ID: Poster #: CR-016

Ileocolic intussusception is a common diagnosis routinely treated by air or contrast enema in the pediatric setting. Cases become less common into the second decade of life with an inverse relationship with pathologic lead points as the inciting culprit. Idiopathic ileocolic intussusception in young pediatric patients has been correlated with seasonality and viral infections, leading to the hypothesis that lymphoid hypertrophy in the terminal ileum acts as the primary lead point in that patient population. Pediatric radiologists are vigilant in evaluation of underlying pathologic lead points in the older population including mechanical causes (Meckel diverticula, polyps, duplication cysts), lymphoma, or hematomas from bleeding disorders (IgA vasculitis, hereditary coagulopathies). Adult surgeons often operate on patients with ileocolic intussusception given the much higher propensity for pathologic lead points. A 20-year-old patient presented to the emergency room with acute onset severe colicky abdominal pain that awoke her from sleep. CT of the abdomen and pelvis was performed showing a right lower quadrant ileocolic intussusception. Patient was otherwise stable and referred to pediatric radiology for successful air enema reduction and planned for further outpatient work up of possible lead points. The patient experienced recurrence of symptoms 1 day later and was taken to the operating room where recurrent ileocolic intussusception was confirmed and ileocecetomy was performed. Pathologic examination of the specimen obtained during surgery revealed reactive lymphoid hyperplasia and multiple reactive mesenteric lymph nodes. Read More

Authors:  Burns Madisen,  Cao Joseph

Keywords:  Intussusception

Rana Ricky,  Densley Ashton

Final Pr. ID: Poster #: CR-017

A 3-year-old male presents to the ED with two days of abdominal pain, cramping, anorexia, bilious emesis, RLQ tenderness on exam, and leukocytosis on CBC, refractory to trial of antiemetics, antipyretics, IV fluids, and analgesics. RLQ US and KUB showed an obstructive pattern. MRI demonstrated an inflamed RLQ fluid signal structure, suggesting appendicitis. CT identified a normal appendix and localized a RLQ transition point confirming high-grade SBO. After a trial of bowel rest, a repeat KUB revealed progression. Laparoscopy visualized a RLQ transition point coinciding with a twisted ileum segment due to a Meckel's diverticulum leadpoint. Segmental bowel resection and ileoileal anastomosis was performed. Hemorrhagic necrosis of a true diverticulum was confirmed histologically.
Meckel's is a common congenital GI anomaly, a vestigial structure from the embryologic omphalomesenteric duct. It has a prevalence of 2% and the complication rate is 6%, to include SBO such as in this case. Presentation is typically in the first 2 years of life. Meckel’s are true diverticula which have mucosal, muscularis, and serosal elements, unlike pseudodiverticula. The presence or absence of a muscularis propria layer cannot be determined on imaging alone, yet is evident on histology. Pseudodiverticula, which are more common along the mesenteric side, can originate anywhere in the GI tract.
Meckel's diverticulum has a narrow imaging differential. The appendix is another true diverticula in the right lower quadrant, although Meckel's originates from the distal ileum rather than the cecum. Diverticulosis often presents later with multiple pseudodiverticula in the left hemicolon. Enteric duplication cysts are another, albeit less common, fluid-filled formation located close to the colon. In contradistinction, communication with the intestinal lumen is unusual.
When a single diagnosis cannot be made and surgery is not warranted, a probabilistic presumptive diagnosis is often used in the absence of histology, particularly in cases where management is the same. Asymptomatic Meckel's diverticulum cases don't require treatment. In complicated yet stable patients, expectant management can be employed. If symptoms progress, surgical management may be needed for diagnosis and treatment.
This case highlights the essential role of imaging along with clinical context to differentiate Meckel's diverticulum from similar entities, in order to guide management. Read More

Authors:  Rana Ricky,  Densley Ashton

Keywords:  Diverticulum ,  Obstruction ,  Meckel's Diverticulum

Shewarega Annabella,  Lin Tony,  Christison-lagay Emily,  Stitelman David,  Hittelman Adam,  Morotti Raffaella,  Silva Cicero,  Rowe Erin

Final Pr. ID: Poster #: CR-018

Multicystic renal tumors (MCRTs) in children encompass a rare and diverse group of neoplastic entities, including cystic nephroma (CN), cystic partially differentiated nephroblastoma (CPDN), and cystic Wilms' tumor (CWT). CPDN occupies an intermediate status between the benign CN and the malignant CWT. Despite marked histological differences, distinguishing these tumors clinically is a complex undertaking.
A 33-month-old male child presented with abdominal pain and recurrent episodes of screaming and knee-drawn postures during sleep. The patient had a recent history of mild gastroenteritis, but no recent travel or sick contacts. Physical examination revealed a palpable abdominal mass. Abdominal ultrasound detected a distinct multicystic lesion in the upper left quadrant, separated from the spleen. While gastric involvement was considered, the lesion appeared isolated from the gastric bubble and fixed. Potential diagnoses included a unique gastric bezoar, vascular mass lesions, and an exophytic renal lesion. MRI revealed a large, multiloculated cystic lesion with septations, primarily contained within the renal boundaries, but protruding medially. Noticeable enlargement of adjacent retroperitoneal lymph nodes prompted consideration of an MCRT, including CWT. An atypical multicystic dysplastic kidney was also considered. The patient underwent surgical resection followed by histopathological analysis, which confirmed the diagnosis of CN.
While radiological imaging aids in diagnosing MCRT, distinguishing between CN, CPDN, and CWT often necessitates histopathological analysis. Vascular invasion can point to a diagnosis of CWT. The presence of solid elements is less helpful, as discerning whether these are part of the tumor or part of the native kidney can be difficult. The accuracy of the diagnosis plays a crucial role in determining the necessity for chemotherapy and/or radiation therapy. This case report highlights the diagnostic complexities associated with MCRTs in pediatric patients and underscores the significance of a multidisciplinary approach that incorporates clinical, radiological, and histopathological evaluations to provide the best possible care for these young patients. Read More

Authors:  Shewarega Annabella,  Lin Tony,  Christison-lagay Emily,  Stitelman David,  Hittelman Adam,  Morotti Raffaella,  Silva Cicero,  Rowe Erin

Keywords:  Cystic Nephroma ,  Abdominal ,  Tumor

Katirtzidou Eirini,  Laurent Meryle,  Habre Celine,  Toso Seema

Final Pr. ID: Poster #: CR-019

Ovarian masses are the most common tumours in paediatric population. Although there is data available on imaging characteristics of different types of masses, benign and malignant, there is no standard imaging classification system. The Ovarian-Adnexal Reporting and Data System Ultrasound (O-RADS) classification system currently used for adults, has not been extensively applied and tested in children and adolescents. Read More

Authors:  Katirtzidou Eirini,  Laurent Meryle,  Habre Celine,  Toso Seema

Keywords:  ovarian mass ,  O-RADS ,  diagnostic accuracy

Farhat Ahmed,  Huang Pauline,  Servaes Sabah,  Hailemichael Eyassu

Final Pr. ID: Poster #: CR-020

A “pancake” kidney is a rare subtype of cross fused renal ectopia, in which there is both fusion of the upper and lower poles of the kidneys in the pelvis, resulting in a disc or cake shaped appearance of the fused kidneys. The cross fused renal ectopia is a rare congenital anomaly caused by abnormal growth of the ureteric bud and separation failure of metanephric tissues with an estimated incidence of 1 in 2000, with a male predominance. Patients are often asymptomatic, but urinary tract infections, ureteropelvic junction obstruction, vesicoureteric reflux, and renal stones can be associated with renal ectopia. We present a case of a 7 year old boy who initially presented to the ED with back pain and clinical concerns of hydronephrosis, with an incidental finding of a “pancake” kidney. Read More

Authors:  Farhat Ahmed,  Huang Pauline,  Servaes Sabah,  Hailemichael Eyassu

Keywords:  Renal Ectopia ,  Pancake kidney

Lipman Monali,  Imel Erik,  Ackah Sarah,  Chen Diane,  Hunter Cynthia,  Wurtz Lawrence,  Zevin Erika,  Karmazyn Boaz

Final Pr. ID: Poster #: CR-022

An 18-year-old male initially presented to an outside hospital with acute knee pain after playing sports. MRI of the left knee demonstrated acute complete rupture of the patellar tendon and incomplete rupture of the quadriceps tendon with multiple T1 hypointense, T2 heterogenous well defined osseous lesions in the distal femur, proximal tibia, and fibula. These lesions were concerning for malignancy, so the patient was referred to orthopedic oncology at our institution. Read More

Authors:  Lipman Monali,  Imel Erik,  Ackah Sarah,  Chen Diane,  Hunter Cynthia,  Wurtz Lawrence,  Zevin Erika,  Karmazyn Boaz

Keywords:  parathyroid carcinoma ,  brown tumor ,  hypercalcemia

Innocente Natalia,  Anoni Maria Clara,  Galeano Monica,  Lipsich Jose

Final Pr. ID: Poster #: CR-023

Report the case of a 9-year-old girl with special education needs, who consults for neuro-cognitive symptoms, short stature, brachydactyly and obesity. The diagnosis was made on the basis of pathognomonic imaging findings and laboratory tests showing hypocalcemia, hyperphosphatemia and increased serum parathyroid hormone (PTH) levels.
Due to the hereditary nature of this rare disease, it is important to say that her mother has a similar phenotype.
Pseudohypoparathyroidism 1A it is a rare disease, an autosomal dominant familial metabolic disorder with a variable imprinting pattern and inheritance. Results from a specific deficiency of a subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO). Read More

Authors:  Innocente Natalia,  Anoni Maria Clara,  Galeano Monica,  Lipsich Jose

Keywords:  Albright hereditary osteodystrophy ,  Pseudohypoparathyroidism

Farhat Ahmed,  Huang Pauline,  Servaes Sabah,  Hailemichael Eyassu

Final Pr. ID: Poster #: CR-024

Enchondroma is a common benign cartilaginous tumor, thirty-five percent of which arise in the hand. Radiologically, they appear as well-defined, geographic osteolytic lesion, usually centrally located within the metadiaphysis, with the cortex remaining intact. However, enchondromas can expand through the cortex, becoming enchondroma protuberans, a rare subtype, forming an exophytic mass in the surrounding soft tissue. Radiologically, enchondroma protuberans typically appear as well-defined geographic, osteolytic intramedullary lesion that may have poorly defined matrix calcification combined with a cortical defect and well-defined round soft tissue expansion. MR imaging clearly delineates the connection between the intramedullary lesion and the exophytic protrusion through the cortical defect, resulting in a diagnosis of enchondroma protuberans. We present the case of a 12 year old male who successfully underwent excision of a right index finger bony lesion pathologically proven to be enchondroma protuberans. Read More

Authors:  Farhat Ahmed,  Huang Pauline,  Servaes Sabah,  Hailemichael Eyassu

Keywords:  Enchondroma Protuberans

Law Emily,  Luo Yu

Final Pr. ID: Poster #: CR-025

Ultrasound is the first line of study of radiolucent foreign bodies, such as wooden or organic foreign bodies. The reported sensitivity is up to 90-100%. However, the orientation, location, and size of such foreign bodies can pose challenges for accurate detection.

Case Presentation: We present a case of a 16-year-old girl who stepped on a small wooden stick, leading to a foreign body penetrating between her fourth and fifth toes, which was removed in the emergency room. Post-removal X-ray and ultrasound failed to identify any residual foreign body, and the patient was discharged home with antibiotics. However, persistent pain and progressive foot swelling prompted a return to the Emergency Room two weeks later. A repeat ultrasound showed increased soft tissue swelling, and hyperemia centered around the webspace of the fourth and fifth digits but failed to detect the foreign body. Subsequent MRI revealed a vertically oriented 1.7 cm long cylindrical structure with a diameter of 0.3cm, demonstrating a hypointense signal in all sequences and hyperintense signal and enhancement in the surrounding tissue compatible with the foreign body. In retrospect, a tiny echogenic focus corresponding to the end of the foreign body is present in a similar location on some of the images of both sonographic exams. The foreign body was surgically removed, and the patient completely recovered within a week.

Discussion: This case highlights the limitations of ultrasound in detecting wooden foreign bodies, particularly when they have a unique orientation, location, and small dimensions; in this case, the foreign body was found vertically oriented (thus perpendicular to the ultrasound probe surface) and between the toes. The ultrasound can only detect the tiny end of the foreign body, which can be easily missed or misinterpreted. With its excellent tissue characterization capabilities, MRI proved to be a valuable tool in this challenging scenario. While ultrasound remains a highly sensitive and specific tool, clinicians should consider additional imaging modalities when faced with challenging cases to avoid missed diagnoses and unnecessary complications. Read More

Authors:  Law Emily,  Luo Yu

Keywords:  foreign body ,  MRI ,  US

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

Final Pr. ID: Poster #: CR-026

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

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

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

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

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

Gumus Memduha,  Lee Sean,  Shah Amisha

Final Pr. ID: Poster #: CR-027

Myositis ossificans is a pseudotumor that originates from skeletal muscle that may be clinically and histologically mistaken for a malignant soft tissue tumor. The correct diagnosis of myositis ossificans is important, as it can prevent unnecessary biopsies or surgery. This case report illustrates the imaging features of myositis ossificans on plain radiography, ultrasound (US), and magnetic resonance imaging (MRI).
The subject of the case report is a 16-year-old female who presented to emergency department with 11 days of posterior right thigh pain with no known history of trauma. Physical examination revealed significant point tenderness in the right posterior thigh. Initial radiographs were normal. A targeted US demonstrated a mixed echogenicity lesion in the deep soft tissues of the posterior lateral right thigh. A follow up US, 2 weeks after the initial one, showed a lesion of mixed echogenicity with a central hypoechoic area encircled by a peripheral hyperechoic area. That peripheral hyperechoic area has some posterior acoustic shadowing suggesting calcifications. An MRI obtained approximately 1.5 months after the initial hospital visit demonstrated a well-defined lesion with heterogeneous T2 hyperintense and T1 intermediate signals along the short head of the right biceps femoris muscle. Mild heterogenous enhancement was seen of the mass and peripheral enhancement within the adjacent soft tissue. Radiographs obtained on the same day as the MRI showed a faintly ossified round mass in the posterior lateral soft tissues of the right thigh. A follow up radiograph obtained 4 months later demonstrated an interval decrease in size of the calcified mass, and the patient’s pain had improved by this time. Read More

Authors:  Gumus Memduha,  Lee Sean,  Shah Amisha

Keywords:  myositis ossificans

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

Reyna De La Garza Karla,  Salinas Puente Estefany,  Mercado Flores Mariana,  Rodríguez Garza Claudia,  Maya Garcia Haziel,  Montemayor Martinez Alberto

Final Pr. ID: Poster #: CR-030

Encephalitis is a rare neurological disease which a viral infection or an autoinmune disorder can cause. Regardless of the etiology, the presentation is widely varied with symptoms stemming from headaches to hallucinations to cardiac dysrhythmias. A diagnosis is most commonly reached through an elimination process, due to the vague nature of the symptoms.
The purpose of this case is to showcase a patient in which the classical imaging findings of an autoimmune encephailits were absent, in favor of an atypical presentation.
A 19-year-old female began with an episode of auditory hallucinations accompanied by a headache, all resolved without treatment. A week later she developed irrational fear as well as nausea and seizures. Visual hallucinations followed, with an altered state of consciousness, memory loss, and a fever of over 100°F. She was admitted into emergency care, where a head CT scan was performed, which revealed a generalized and diffuse decrease in density of the white matter, corresponding to cerebral edema. Spinal fluid revealed a high protein count, with normal glucose and white blood cell count. An electroencephalogram resulted in the presence of theta brain waves with the absence of an epileptogenic area, which indicates a disfunctional neurological state. The patient developed respiratory distress requiring intubation and was admitted into the intensive care unit with a new treatment of antiviral medicine, with the new diagnostic suspicion of encephalitis. A contrast-enhanced thoracoabdominal CT was performed, which revealed a right adnexal theratoma, guiding the diagnostic suspicion to an anti-NMDA induced encephalitis, for which a brain contrast-enhanced MRI was performed, with no classical findings present such as hippocampal atrophy and temporal lobe hyperintensity; instead the T2-based sequences showed cystic oval lesions in the frontal, temporal and occipital lobe, as well as diffuse hyperintensity of white matter, susceptibility weighted sequences showed focal round hypointesities corresponding to microhemorrhages distributed through the entirety of the white matter, and the gadolinium-enhanced sequence showed avid enhancement of the cystic lesions. A second spinal fluid test revealed antibodies against NMDA receptors and immunoglobulin treatment was administered with a poor response from the patient who presented heart failure shortly after and died. Read More

Authors:  Reyna De La Garza Karla,  Salinas Puente Estefany,  Mercado Flores Mariana,  Rodríguez Garza Claudia,  Maya Garcia Haziel,  Montemayor Martinez Alberto

Keywords:  encephalitis ,  autoimmune ,  neuroradiology

Szymanski Kathryn,  Arnold Cerys,  Dhatt Jovan,  Pfeifer Cory

Final Pr. ID: Poster #: CR-031

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

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

Keywords:  Kenny Caffey Syndrome

Szymanski Kathryn,  Pfeifer Cory,  Friedman Neil,  Kuwabara Michael

Final Pr. ID: Poster #: CR-033

Balamuthia mandrillaris is an amoeba that causes an uncommon but deadly encephalitis, referred to as granulomatous amoebic encephalitis (GAE). The highest incidence reported worldwide has occurred in America, and within the United States, it has been highest in the Southwest affecting predominantly children and young men of Hispanic ethnicity. Clinical presentation of GAE includes fever, headache, nausea, vomiting, lethargy, irritability, stiff neck, hallucinations, photophobia, and seizures. Our patient was a Hispanic male child living in Arizona. The patient presented at 3 years of age for severe encephalitis. Symptoms included difficulty with balance, gait, and sitting up and seizure-like activity. Initial CT showed an area of decreased density consistent with edema in the left frontoparietal lobe. Rapid progression was seen on further imaging over the length of the patient’s hospital stay revealing diffusion restriction, necrosis/blood products, edema, and hemorrhage. The patient expired from tonsillar herniation 22 days after the onset of initial symptoms and 4 days after admission to our institution. While there are multiple biochemical techniques that can test for B. mandrillaris, they are rarely employed for multiple reasons stemming from the rare occurrence of this infection. Balamuthia mandrillaris can cause a lethal brain infection. Because of the fatal nature of this infection, we propose 1) testing should be considered if a patient presents with progressing encephalitis on imaging and other pathogenic etiologies are ruled out and 2) the threshold to treat empirically should be low due to the fatal nature of the infection. Read More

Authors:  Szymanski Kathryn,  Pfeifer Cory,  Friedman Neil,  Kuwabara Michael

Keywords:  amoeba ,  Balamuthia mandrillaris ,  brain infection

Blundo Gianna,  Jones Kathryn,  Mishra Chakradhar,  Vorona Gregory,  Hinh Lylie,  Mahdi Eman,  Wang Zhihong,  Tye Gary,  Ritter Ann,  Petersson Rajanya,  Richard Hope,  Al-samarraie Mohannad

Final Pr. ID: Poster #: CR-035

In our case series, we highlight the imaging findings of two patients with rare “neuroblastoma” tumors in which the diagnosis was not considered preoperatively, emphasizing the importance of pediatric radiologists being aware of these unusual etiologies for accurate diagnosis and management.

A 17-year-old with blurry vision presented with progressive visual deterioration. MRI revealed a 5.5 cm mass in the inferior left frontal lobe, impacting the prechiasmatic optic nerve and optic chiasm. A CTA confirmed the lesion's encasement of the circle of Willis's left aspect. The patient underwent a craniotomy for tumor resection, revealing a primary CNS neuroblastoma FOXR2-activated, WHO grade 4.

Another patient, a 13-year-old female, reported vomiting, abdominal pain, and diarrhea. The past medical history included Lyme disease and "cat scratch" fever. Severe hyponatremia was discovered, initially attributed to viral sequelae, necessitating prolonged hospitalization. An incidental nasal cavity/maxillary sinus "polyp" was identified and excised, diagnosed as olfactory neuroblastoma (Esthesioneuroblastoma), Hyam grade 3, Kadish stage 2. Post multiple surgeries and radiation, the hyponatremia, a result of SIADH, resolved with tumor treatment.

Neuroblastomas, typically arising from the adrenal gland or retroperitoneum, are the most common extracranial solid pediatric tumors. They are usually sporadic, but sometimes associated with specific syndromes. Primary intracranial neuroblastomas are rare, with ambiguous classification and no distinct imaging characteristics or established adjuvant treatment protocols, contributing to high recurrence rates. CNS neuroblastomas more commonly affect the spine, with intracranial instances being rare but important differential diagnoses for pediatric brain tumors.

Similarly, esthesioneuroblastomas, originating from olfactory neuroepithelial cells, are rare, constituting only 0.6% of all upper aerodigestive tract tumors. Ectopic cases are even rarer, with some inducing paraneoplastic syndromes like ectopic Cushing’s or SIADH. Particularly, esthesioneuroblastomas with SIADH-related euvolemic hyponatremia have a mere 2% prevalence and should be considered in atypical/refractory hyponatremia cases with incidental sinus masses. Read More

Authors:  Blundo Gianna,  Jones Kathryn,  Mishra Chakradhar,  Vorona Gregory,  Hinh Lylie,  Mahdi Eman,  Wang Zhihong,  Tye Gary,  Ritter Ann,  Petersson Rajanya,  Richard Hope,  Al-samarraie Mohannad

Keywords:  neuroblastoma ,  enthesioneuroblastoma

Olushekun Abdul Hamid,  Rutkin Melissa

Final Pr. ID: Poster #: CR-037

Neuropsychiatric symptoms are common manifestations of lupus, often presenting within a year of diagnosis. The American College of Rheumatology (ACR) published a list of 19 neuropsychiatric syndromes observed in SLE citing an up to 20% incidence of generalized or focal seizures. PRES, which typically presents with seizures, headache, altered mental status and visual disturbances, may mimic neuropsychiatric SLE (NPSLE), as presented in this case.

The patient is a 17-year-old female with a history of SLE (diagnosed 2 months prior), lupus nephritis (class IV), GAD, and prior suicide attempt who presented via EMS after an unwitnessed fall. En route to the hospital, she had a seizure which lasted less than 5 minutes. In the ED, she was hypertensive to 146/92 mmHg and physical exam was notable for dilated but reactive pupils and GCS 11. While undergoing a CT scan of the head, she had 2 more seizures. CT scan revealed no acute abnormalities. She was medically stabilized and subsequently transferred to the PICU for further management. Blood pressure had increased to 162/106 mmHg. MRI brain and MRA Head and Neck were obtained which revealed findings most consistent with PRES without any evidence of vasculitis or high-grade stenosis.

Hospital course was complicated by ARDS secondary to pulmonary hemorrhage requiring intubation, increased PTT, MRSA and C Diff infections, for which the patient was treated. 24-hour vEEG did not reveal any seizure activity but showed diffuse slowing of brain waves suggestive of gross cerebral dysfunction. Repeat MRI 5 days after admission showed no changes in above described MRI findings. Patient’s blood pressure improved to 146/92, but she remained intubated and sedated due to ARDS, making it difficult to assess for any improvement in her mental status. Patient was subsequently transferred to an ECMO-capable hospital due to profound hypoxia.

PRES, which often presents with seizures, has been described as a presenting feature of SLE in case reports, and can mimic NPSLE. The underlying pathophysiology and management of NPSLE and PRES are distinct, therefore identifying the imaging features of the many presentations of NPSLE and the imaging findings of PRES is imperative. PRES typically has a favorable outcome if recognized and treated promptly. We present a case of PRES in newly-diagnosed SLE to highlight the imaging features and importance of blood pressure monitoring in early SLE. Read More

Authors:  Olushekun Abdul Hamid,  Rutkin Melissa

Keywords:  PRES ,  Systemic lupus erythematosus

Pelizzari Mario,  Montalvetti Pablo,  Joulia Vulekovich Lara,  Ledesma Ricardo

Final Pr. ID: Poster #: CR-038

Case Presentation
A 27-year-old female patient, primigravida, with no pathological clinical history, and a low risk first-trimester screening for aneuploidy and preeclampsia. Morphological ultrasound was performed at 21 weeks of gestational age, revealing a cystic structure at the lumbosacral spine with bone alteration. Myelomeningocele was suspected, but no associated Chiari type II anomaly was observed. Additional Fetal Magnetic Resonance Imaging (Fetal MRI) was requested.

Findings
At 24 weeks, an obstetric ultrasound was made identifying a cystic image at the lumbosacral level with the absence of a placode. An osseous spur protruding into the medullary canal was observed, dividing the medullary cone in two. Suspicious fatty tissue suggestive of a lipoma was also noted. Fetal MRI confirmed the ultrasound findings, consistent with diastematomyelia (DM) associated with closed meningocele, lipoma, and medullary canal ectasia.

Discussion
Dysraphism are congenital malformations of the spinal canal, with a prevalence of 1 to 3 per 1000 live births, and the lumbosacral spine being the most commonly affected site.
DM is a closed-type dysraphia in which there is a splitting of the spinal cord into two halves separated by a fibrous, cartilaginous, or bony septum. Clinical manifestations are variable and are typically related to orthopedic problems, urinary or fecal incontinence, and characteristic cutaneous abnormalities.
When isolated, DM tends to have a favorable prognosis, but approximately one-third of affected patients have an accompanying dysraphism. Current recommendations include early postnatal surgery to prevent further complications.

Conclusion
DM is a rare disorder of spinal development that can be diagnosed prenatally through imaging. Precise identification of the lesion and the exclusion of other associated structural malformations are crucial for prognosis. Read More

Authors:  Pelizzari Mario,  Montalvetti Pablo,  Joulia Vulekovich Lara,  Ledesma Ricardo

Keywords:  diastematomyelia ,  Fetal MRI ,  Ultrasonography

Pelizzari Mario,  Ledesma Ricardo,  Musso Marcos,  Perez Ricardo,  Montalvetti Pablo,  Joulia Vulekovich Lara

Final Pr. ID: Poster #: CR-040

Case Presentation: We will show two cases, of patients aged 16 and 24 years, at 24 and 30 weeks of gestation, who were referred for a second-trimester ultrasound.
Findings: The ultrasound revealed an enlarged lateral ventricle associated with an increased size of the ipsilateral cerebral hemisphere. A fetal MRI was performed revealing subependymal gray matter nodules, pachygyria, and areas of gliosis in the white matter.
Discussion: Hemimegalencephaly is a rare congenital malformation initially described by Sims in 1835. It involves the partial or total overgrowth of a cerebral hemisphere with varying degrees of pachygyria, polymicrogyria, neuronal heterotopia, and white matter gliosis due to a disorder in germ cell proliferation, migration, and differentiation.
Its etiology remains unknown, and it does not exhibit a gender preference. Clinically, 90% of patients present with focal or generalized epileptic seizures. They may also exhibit hemiparesis and mental retardation.
Hemimegalencephaly can present in an isolated manner or be associated with various syndromes, including hypertrophy of the ipsilateral hemibody or total involvement, which affects the cerebellum and brainstem.
Prenatal diagnosis is suspected through ultrasound, identifying ventricular asymmetry and unilateral ventricular dilation. Fetal MRI confirms these findings and allows the assessment of gray and white matter disorders.
Conclusion: Hemimegalencephaly is a rare and severe condition that should be considered in prenatal assessment by ultrasound. Its diagnosis is facilitated by advances in fetal MRI, where the findings and their severity correlate with the clinical presentation. Read More

Authors:  Pelizzari Mario,  Ledesma Ricardo,  Musso Marcos,  Perez Ricardo,  Montalvetti Pablo,  Joulia Vulekovich Lara

Keywords:  hemimeningencephaly ,  Fetal MRI ,  Ultrasonography

Salman Rida,  Sher Andrew

Final Pr. ID: Poster #: CR-041

3-year-old female with history of Aromatic l-amino acid decarboxylase (AADC) deficiency presented for direct intra-putaminal Dopa decarboxylase (DDC) gene therapy infusion.
Pre-therapy 18F-DOPA PET brain study fused to MRI demonstrates absence of normal radiotracer uptake in the basal ganglia/putamen, consistent with history of AADC deficiency and inability to uptake and convert 18F-DOPA to 18F fluorodopamine. MRI Brain demonstrates normal appearance of the putamen. Intraoperative images from intra-putaminal DDC gene therapy infusion via a frame-based stereotactic approach. Following frame placement, 4 gene vectors delivered in a adeno-associated viral vector are infused to the putamen bilaterally. Intraoperative T2 Axial MRI confirms appropriate localization with increased signal seen in the anterior and posterior aspects of the putamen bilaterally. Post-therapy 18F-DOPA PET brain study, fused to MRI 10 weeks following intraputaminal infusions of the DDC genes coding for AADC, demonstrates development of robust 18F-DOPA uptake in the putamen, indicative of successful AADC production following gene therapy.
AADC enzyme deficiency is a debilitating autosomal recessive disease due to a mutation in the Dopa decarboxylase gene (DDC). Subsequent dopamine deficiencies result in profound motor and autonomic dysfunction, developmental delay and early mortality. Mean age of diagnosis is 3.5 years, severe cases often die before age 7. While currently no cure, novel gene therapy treatments utilizing direct infusion of the DDC gene into the basal ganglia/putamen have shown promising clinical results. While anatomic imaging such as MRI are typically normal, 18F-DOPA PET scans measure the uptake of the tracer and its conversion to 18F-fluorodopamine, indicating appropriate DDC function in the basal ganglia dopaminergic nerve terminals. 18F-DOPA PET scans can be used to assess the efficacy of gene therapy by demonstrating the successful development of striatal uptake prior to improvement of clinical symptoms. Read More

Authors:  Salman Rida,  Sher Andrew

Keywords:  18F-DOPA PET ,  gene therapy ,  AADC

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

Kong Tracie,  Ghahremani Shahnaz

Final Pr. ID: Poster #: CR-044

Coccidioidomycosis is an endemic fungus in the American southwest, and all age groups are susceptible to this infection. While acute and chronic pneumonia is the most common manifestation, disseminated infections particularly in immunocompromised patients can involve the skin, skeletal system and central nervous system. Five cases with different clinical manifestations of coccidioidomycosis in the pediatric population from our institution will be presented to illustrate the spectrum of this infection. The case series will explore the various imaging patterns, including pulmonary consolidation and miliary nodules, axial and appendicular osteomyelitis, and leptomeningeal and intraocular disease. While no single imaging feature is specific to this pathogen, the possibility of Coccidioidomycosis should be raised given certain clinical presentations and imaging findings in order to reach a timely diagnosis and begin treatment with anti-fungal therapy. Read More

Authors:  Kong Tracie,  Ghahremani Shahnaz

Keywords:  coccidioidomycosis ,  cocci ,  Coccidioides

Cristobal Alberto,  Martinez-sicari Jorge,  Vorona Gregory,  Jones Kathryn,  Austin Frances,  Mahdi Eman

Final Pr. ID: Poster #: CR-045

Aspergillus species are ubiquitous environmental molds that healthy humans encounter daily without any adverse effects. However, these molds can cause a range of diseases in immunocompromised individuals, collectively known as invasive aspergillosis. These diseases can affect the sinuses, tracheobronchial tree, lungs, skin, or disseminate. The most common form of invasive aspergillosis is invasive pulmonary aspergillosis, which has high morbidity and mortality rates and requires prompt diagnosis and treatment. A severe form, known as angioinvasive pulmonary aspergillosis, occurs when mold hyphae invade the pulmonary arteries and cause necrosis and hemorrhage of the lung parenchyma. We present such a case in a 17-year old boy with acute myeloid leukemia who developed pulmonary pseudoaneurysms as a complication. The patient was initially admitted to the hospital for scheduled chemotherapy. Several complications occurred, including neutropenic fevers, cough, and pleuritic chest pain, despite broad-spectrum antibiotics. Initial imaging with CT pulmonary angiography showed multifocal nodules and masses with surrounding groundglass opacities. Serum aspergillosis galactomannan and Fungitell were strongly positive. Bronchoalveolar lavage was not performed due to profound anemia and thrombocytopenia. Initial treatment included dual-antifungal therapy with continued treatment upon discharge. Follow-up CT exams demonstrated complications with multiple pseudoaneurysms necessitating repeat hospitalizations, coil embolization, and lobectomy. This case demonstrates classic CT findings of angioinvasive pulmonary aspergillosis, including the "halo" and “air crescent” signs. In our case, the patient developed complications with pulmonary pseudoaneurysms that required multiple interventions. Prompt diagnosis and treatment of this condition is important due to the life-threatening implications. Read More

Authors:  Cristobal Alberto,  Martinez-sicari Jorge,  Vorona Gregory,  Jones Kathryn,  Austin Frances,  Mahdi Eman

Keywords:  Invasive aspergillosis ,  Pseudoaneurysm ,  Immunocompromised

Bezzant Braydan,  Guo Grace,  Roberie Dustin

Final Pr. ID: Poster #: CR-048

Down syndrome, typically caused by Trisomy 21, is the most common chromosomal abnormality resulting in intellectual disability affecting 1 in 600-800 pregnancies worldwide. Respiratory problems are the leading cause of hospitalizations and excess mortality in DS, accounting for 42% of admissions through age 2 years. Respiratory issues include pulmonary vascular disease, recurrent respiratory infection, sleep-disordered breathing, airway abnormalities, or subpleural cysts. Abnormalities like craniofacial anomalies, developmental delay, chronic aspiration, and hypotonia contribute to the severity of respiratory issues. Independent of congenital heart defect status, the lungs of DS children have widened alveolar ducts, and fewer and enlarged alveoli. These alveolar changes along with connective tissue abnormalities are believed to contribute to the development of subpleural cysts found in up to 20-36% of DS children. The clinical significance of these cysts is variable. It is important for radiologists to be familiar with subpleural cysts associated with DS as it may prevent misdiagnosis with other serious conditions. Additionally, subpleural cysts may increase the risk for pneumothorax or parenchymal damage during mechanical ventilation or surgery. Generally, subpleural cysts are poorly seen on radiographs and have been primarily identified using CT. We present a 5 year old male with DS, born at 36 weeks gestation, who presented to the emergency room with cough, rhinorrhea, and fever. He had no history of respiratory issues and received routine vaccinations. Chest radiograph revealed bilateral apical predominant subpleural cystic lucencies, perihilar fullness, and peribronchial cuffing. He was diagnosed with acute upper respiratory infection and discharged home with symptomatic management and outpatient follow-up. Sedated CT of the chest two weeks later had findings of diffuse bilateral subpleural and perilymphatic cysts, small subpleural calcifications, and mild scattered interlobular septal thickening. Since he did not have respiratory issues at baseline or after his illness, there was less concern for progressive disease requiring intervention and he was managed with conservative monitoring. Our case highlights the importance of recognizing pulmonary manifestations frequently associated with DS to improve disease recognition and prevention of complications. Read More

Authors:  Bezzant Braydan,  Guo Grace,  Roberie Dustin

Keywords:  Cystic Lung Disease