Ndolo Josephine,  Crane Gabriella,  Hernanz-schulman Marta

Final Pr. ID: Poster #: CR-001

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

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

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

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

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

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

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

Pfeifer Cory,  Beavers Angela

Final Pr. ID: Poster #: CR-002

Teratomas uncommonly manifest in the gastrointestinal system, and most international literature cites the total number of gastric teratomas reported to be approximately 120. Of these, only 12-30 are of the immature variety. Reports of immature gastric teratoma in the United States are scant. Presented here are images from what appears to be the first known fetal MRI to demonstrate a gastric immature teratoma with follow-up radiographic, fluoroscopic, and CT imaging of the infant. Read More

Authors:  Pfeifer Cory,  Beavers Angela

Keywords:  Fetal MRI ,  Gastric Teratoma

Steinmeyer Laura,  Desoky Sarah,  Gilbertsondahdal Dorothy,  Morello Frank,  Udayasankar Unni

Final Pr. ID: Poster #: CR-003

Acute colocolic intussusception is a rare in the pediatric population and generally involves a pathologic lead point, which usually necessitates surgical or endoscopic intervention. No prior published reports have demonstrated presurgical imaging findings of colonic polyp in cases of pediatric colocolic intussusceptions. We will present two pediatric cases from our institution that feature colocolic intussusception with an intestinal polyp as a lead point, with a goal to demonstrate specific sonographic and MR findings. Read More

Authors:  Steinmeyer Laura,  Desoky Sarah,  Gilbertsondahdal Dorothy,  Morello Frank,  Udayasankar Unni

Keywords:  intussusception ,  colonic ,  polyp

Biyyam Deepa,  Youssfi Mostafa,  Mandell Gerald,  Taylor Steve,  Patel Mittun

Final Pr. ID: Poster #: CR-004

Calcifying nested stromal epithelial tumor (CNSET) is a very rare primary liver tumor in children. To our knowledge, about 30 cases have been reported in literature. We describe the imaging appearance and histopathologic features of this tumor detected in a 2 year old girl who presented with an incidentally detected calcified liver lesion on a chest x-ray which was obtained for cough.
Computed tomography (CT) demonstrated a 5.5 centimeter sized heterogeneous mass with large coarse calcifications. MRI better demonstrated the margins of the lesion, which was predominantly hyper-intense on T2-weighted images. Large areas of signal void were seen in the superior aspect of the lesion, corresponding to the calcifications seen on CT. The lesion demonstrated restricted diffusion. Post-contrast, the lesion demonstrated enhancement in the portal venous phase with washout on the delayed phase. Initial diagnosis based on imaging findings and patient’s age was hepatoblastoma. However, serum alpha- fetoprotein (AFP) was normal, which is unusual with hepatoblastoma. Patient underwent subsequent wedge biopsy, which was proven to represent calcifying nested stromal epithelial tumor of the liver. PET/CT, obtained to evaluate for metastatic disease, demonstrated increased FDG activity within the primary hepatic lesion, with SUV Max of 3.5, with no evidence of FDG avid metastatic disease. She then underwent right hepatectomy and cholecystectomy.

No sign of tumor recurrence has been noted to date on the follow up abdominal ultrasound examination in the past 2.5 years.

Calcifying nested stromal epithelial tumor should be considered in the differential when a large heterogeneous liver tumor with coarse/ chunky calcifications is identified at imaging in the absence of elevated serum AFP in a child. Currently the standard treatment in complete surgical excision and liver transplantation if excision is not possible. Read More

Authors:  Biyyam Deepa,  Youssfi Mostafa,  Mandell Gerald,  Taylor Steve,  Patel Mittun

Keywords:  nested stromal epithelial ,  tumor ,  liver

Seymore Noah,  Zoghbi Bachir,  Sotelo-avila Cirilo,  Farmakis Shannon

Final Pr. ID: Poster #: CR-005

Fetal abdominopelvic cystic lesions have various etiologies but are most commonly ovarian or gastrointestinal in origin. Congenital pancreatic cysts are rare entities that typically arise from the pancreatic body and tail, more often in females. In contrast, pancreatic heterotopia or an ectopic pancreas is defined as pancreatic tissue found outside the normal region of the pancreas without a vascular or anatomic connection to the pancreas. It is most commonly associated with the gastrointestinal tract, with >90% of cases located in the stomach, duodenum, or jejunum, and has been known to form cystic structures. We describe an unusual case of a term female neonate with a prenatal diagnosis of an abdominopelvic cyst. The patient had episodes of hypoglycemia secondary to hyperinsulinism requiring a continuous glucose infusion. On surgical resection, the cyst was found to extend from the retroperitoneum towards the left colon without connection to the pancreas or gastrointestinal tract. Histopathological evaluation showed components of pancreatic heterotopia including islets of Langerhans surrounded by acinar cells and dilated pancreatic ducts. The immunostain for Chromogranin showed numerous alpha and beta cells confirming pancreatic tissue. Hypoglycemic episodes improved following cyst resection.
This is the first reported case of retroperitoneal cystic pancreatic heterotopia in a neonate in the English literature. We will present the ultrasound findings as well as surgical and histopathologic images. Read More

Authors:  Seymore Noah,  Zoghbi Bachir,  Sotelo-avila Cirilo,  Farmakis Shannon

Keywords:  pancreatic heterotopia ,  cyst ,  neonate

Teo Yi-ming

Final Pr. ID: Poster #: CR-006

Intestinal lymphangiectasia is a rare disease characterised by dilated intestinal lacteals causing loss of lymph into the small bowel lumen and resultant hypoproteinemia, hypogammaglobulinemia, hypoalbuminemia and lymphopenia. The disease may occur as a primary / congenital form (primary idiopathic intestinal lymphangectasia / Waldmann disease) or as a secondary form resulting from causes of lymphatic obstruction, such as tumor or fibrosis.

Our case report describes the workup of an adolescent girl with known Primary Intestinal Lymphangiectasia (Waldmann disease) presenting with an acute history of abdominal pain and vomiting. We present her prior imaging leading to her initial diagnosis of Waldmann disease, as well as at the time of acute presentation, with imaging features raising suspicion for, and eventually leading to histo-pathologic confirmation of small bowel B-cell lymphoma.

Via this case report poster, we hope to create awareness of this rare disease, as well as its feared association of lymphoma. Typical imaging features are presented and discussed.
Read More

Authors:  Teo Yi-ming

Keywords:  Intestinal Lymphangiectasia ,  Lymphoma ,  Waldmann Disease

Kolluri Akhil,  Smith Stephen,  Gowda Madhu,  Austin Frances,  Bagwell Charles,  Oiticica Claudio,  Vorona Gregory

Final Pr. ID: Poster #: CR-007

Wilm’s tumor (nephroblastoma) is the most common pediatric renal mass, with rare reports of extra-renal Wilm’s tumors which primarily arise elsewhere in the retroperitoneum. We present a small series of patients who have recently been treated at our institution with histologically-proven extra-renal Wilm’s tumors. The first patient is a six year old female who initially presented to an outside hospital with a draining “perianal abscess”, who on subsequent workup was found to have a large infiltrative pelvic mass and multiple pulmonary metastases (image 1). The second patient is a six year old female who initially presented with abrupt onset of right-sided abdominal pain which woke her from sleep, and who was found on imaging to have a large right-sided retroperitoneal hemorrhage originating from a hemorrhagic suprarenal mass (images 2 and 3).

We will review the pertinent imaging and histological findings from these patients, as well as briefly review what has been previously published about this rare rumor.

The imaging features of extra-renal Wilm’s tumor are heterogeneous and not specific, making it important that the radiologist consider this etiology when presented with a retroperitoneal mass in a pediatric patient within the first decade of life. Read More

Authors:  Kolluri Akhil,  Smith Stephen,  Gowda Madhu,  Austin Frances,  Bagwell Charles,  Oiticica Claudio,  Vorona Gregory

Keywords:  Wilm's tumor ,  nephroblastoma ,  extra-renal

Morgan Stephen,  Conway Deborah

Final Pr. ID: Poster #: CR-008

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

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

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

Authors:  Morgan Stephen,  Conway Deborah

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

Skelton Hales,  Hedlund Gary

Final Pr. ID: Poster #: CR-009

The purpose of this case report is to familiarize the radiologist with the MR imaging findings of fatal heat stroke.

Heat stroke is a severe illness characterized by a core temperature > 40 degrees Celsius, with clinical manifestations of delirium, seizures, and coma, resulting from environmental exposure or physical exertion. This report focuses upon environmental, or classical, fatal heat stroke in the case of a 4 year old male who was left alone for 30 minutes in a vehicle with ambient exterior temperatures of greater than 37.8 degrees Celsius.

As a form of hyperthermia, heat stroke ensues from thermoregulatory failure in addition to systemic inflammatory and coagulation phase responses, and conceivably, from modified manifestation of heat shock proteins. Infants and young children comprise a population specifically vulnerable to heat stroke due to their large surface area to volume ratio, underdeveloped thermoregulatory system with small blood volume relative to body size, and decreased sweat production.

The CNS is especially susceptible to hyperthermia as cerebral edema and cerebrovascular congestion may lead to increased intracranial pressure, and ischemia or hemorrhage. The cerebellum is the area most sensitive to heat injury, with known direct injury to Purkinje cells, and resultant cerebellar atrophy, often leading to neuronal dysfunction, including ataxia.

MR imaging findings in heat stroke are typically multifocal reflecting the complex interplay of direct thermal injury, hypoxic ischemic injury, endothelial damage, cytokine mediated inflammation and coagulopathy.

MRI in our case of fatal heat stroke demonstrates diffuse signal abnormality within the peripheral cerebellar hemispheres (eg. Purkinje cell regions). MRI recapitulates the known pathology of fatal heat stroke with injury to Purkinge cells and adjacent Bergmann glia. Other reported heat stroke related MRI findings include T2 prolongation and restricted diffusion involving the paramedian thalamic nuclei, dentate nuclei, basal ganglia, hippocampii, and cerebral cortex particularly the vascular watershed zones.

If the health history for heat stroke is uncertain, the imaging differential diagnosis includes other cerebellar syndromes including: toxic - metabolic (eg. opiate toxicity), infectious-autoimmune (eg. Varicellar zoster cerebellitis), histiocytic neoplastic-like (eg. histiocytoses) and neoplastic (eg. leptomeningeal PNET) should be considered in the imaging differential diagnosis. Read More

Authors:  Skelton Hales,  Hedlund Gary

Keywords:  Hyperthermia ,  Encephalopathy ,  Fatal

Ly Juan Domingo,  Subramanian Subramanian,  Rajan Deepa,  Greene Stephanie,  Zuccoli Giulio

Final Pr. ID: Poster #: CR-010

An 11-year-old female presented with 3-weeks history of intractable vomiting, nausea, blurred vision, vertical nystagmus and ataxia with gait instability. A CT scan revealed a small calcification at the left craniocervical junction (CJJ) and mild effacement of the fourth ventricle (Figure). MRI showed a partially-enhancing medulla oblongata lesion and a non-enhancing cystic exophytic lesion abutting the left pre-medullary cistern. There was avid thick enhancement along the ventrolateral surface of the medulla oblongata. No restricted diffusion was present. MR spectroscopy demonstrated decreased NAA and elevated lactates. Based on imaging findings, a brainstem glioma with exophytic component was suspected. The CBC, CMP, ESR and CRP were normal. The patient underwent suboccipital craniectomy with C1 laminectomy, and an exophytic pale gray mass was identified. Multiple specimens were taken, and frozen diagnosis showed only necrosis. The cyst wall was resected. Resection of the brainstem component was limited by neurophysiology. Histologically, the lesion consisted of a fibrous cyst wall lined by columnar to pseudostratified columnar epithelium, findings reflecting a neuroenteric cyst. No glial tissue was identified. Gram stain and Grocott stain were negative for bacterial and fungal specimens. An empiric treatment with wide spectrum antibiotic was started. Follow-up MRI demonstrated near complete resolution of edema in the medulla oblongata, and substantial decrease in enhancement in anterolateral exophytic component and patient has substantially improved clinically. In retrospect, a sinus tract extended from the cystic lesion at the craniocervical junction into the brainstem causing edema, inflammation and enhancement which resolved once the cyst was surgically decompressed.

Conclusion:
This case shows a neuroenteric cyst connected to the brainstem, through a sinus tract leading to chronic inflammation and infection, resulting in imaging findings resembling a brainstem glioma. Surgical decompression of the cyst and antibiotic treatment resulted in resolution of the brainstem lesion. Read More

Authors:  Ly Juan Domingo,  Subramanian Subramanian,  Rajan Deepa,  Greene Stephanie,  Zuccoli Giulio

Keywords:  Neurenteric ,  magnetic resonance imaging MRI ,  glioma

Pfeifer Cory,  Menon Keshav

Final Pr. ID: Poster #: CR-011

Propionic acidemia is a rare autosomal recessive disorder in which a genetic mutation results in the abnormal function of propionyl co-enzyme A (CoA) carboxylase, an enzyme involved in protein breakdown and lipid catabolsim. This results in the accumulation of metabolites which can have devastating neurologic consequences. The incidence in the United States has been reported as 1 in 100,000 births. The genetic and metabolic factors contributing to this disorder are discussed. Read More

Authors:  Pfeifer Cory,  Menon Keshav

Keywords:  Metabolic Crisis ,  Organic Acidemia ,  Propionic Acidemia

Taylor Susan,  Bajaj Manish,  Sato Yutaka,  Policeni Bruno

Final Pr. ID: Poster #: CR-012

We will present imaging findings of segmental spinal dysgenesis in a series of 3 cases of this rare congenital abnormality. We will also describe the embryological basis and pertinent clinical features.

Case 1: 8-year-old female recently adopted from China with history of severe scoliosis, neurogenic bladder, and chronic kidney disease. Plain radiographs demonstrate severe destroscoliosis in thoracolumbar region with associated kyphosis. MRI reveals multiple segmentation/formation anomalies in the lumbosacral region. The coccyx was not identified, likely representing associated partial sacrococcygeal dysgenesis. The spinal cord was severely dysgenetic in the lower thoracic region (Figure 1, white outlined arrow). The superior segment of the spinal cord extends from the cervicomedullary junction to the level of T8, where it ends abruptly. No intervening cord tissue is seen between the T8 level and lumbar region. There is an enlarged spinal cord segment at the level of the sacrum in the spinal canal, separate from the superior segment (Figure 2, solid white arrow). CT with 3D reconstruction better demonstrated multiple segmentation/formation anomalies in the thoracic and lumbosacral region, including butterfly vertebrae, hemivertebrae, and block vertebrae. There were 10 ribs on the right noted with the superior 2 ribs fused. Read More

Authors:  Taylor Susan,  Bajaj Manish,  Sato Yutaka,  Policeni Bruno

Keywords:  Congenital ,  Spine ,  Scoliosis

Cao Joseph,  Pfeifer Cory,  Clarke Rebekah,  Veltkamp Daniel

Final Pr. ID: Poster #: CR-013

Metronidazole is a commonly used and effective antimicrobial agent for gastrointestinal and genitourinary infections throughout the world. Common side effects of nausea, taste/appetite changes, and headache are well known, however, CNS side effects such as cerebellar dysfunction, dysarthria, and seizures have been reported even at therapeutic levels in rare instances. A previous review of the case literature concluded that resolution of symptoms was independent of age, however, evaluation of the pediatric population is limited. Read More

Authors:  Cao Joseph,  Pfeifer Cory,  Clarke Rebekah,  Veltkamp Daniel

Keywords:  Metronidazole ,  side effect ,  MRI

Grundlehner Paul,  Gibson Donald

Final Pr. ID: Poster #: CR-014

Wilms tumor is a common malignant renal neoplasm in children and accounts for the vast majority of renal tumors in children. Modern treatment regimens have increased overall survival for Wilms tumor to over 90%[1]. Despite this, 10-15% of patients with favorable histology and up to 50% with anaplastic histology will experience primary progression or recurrence. The most common site of recurrence is to the lungs and the liver[2]. Peritoneal disease and recurrence has been described[3-4].
We present an interesting case of a 13-year-old female with extensive peritoneal recurrence of Wilms tumor. The patient initially presented at the age of 12 with a 3-day history of abdominal pain. CT revealed a 13 cm right renal mass with no other lesions in the chest, abdomen, or pelvis. She underwent right nephrectomy, during which she was upstaged to stage 3 when tumor rupture occured. Histology was favorable. She completed chemo and radiotherapy. CT CAP at 6 months follow-up showed no recurrent disease. Approximately 7 months later or 13 months after initial diagnosis the patient presented with constipation and abdominal pain. Initial non-contrast CT demonstrated filling of the abdomen and pelvis with a high density material(Figure 1). Given the patient’s history and concern about some nodularity to the density, MRI was performed and demonstrated extensive heterogeneous mass-like peritoneal disease filling the abdomen and pelvis(Figure 2). There were additional areas of peritoneal caking and thickening(Figure 3). Ultrasound guided biopsy was performed and the pathology was identical to that of the excised Wilms.
While unusual recurrent Wilms tumor should be included in the differetial diagnosis of massive intraperitoneal neoplasia

1. Metzger, M. L. (2005). Current Therapy for Wilms Tumor. The Oncologist, 10(10), 815-826. doi:10.1634/theoncologist.10-10-815
2. Dome, J. S., Rodriguez-Galindo, C., Spunt, S. L., & Santana, V. M. (2014). Pediatric Solid Tumors. In Abeloff's Clinical Oncology (5th ed.). Philadelphia: Churchill Livingstone/Elsevier.
3. Brisse, H. J., Schleiermacher, G., Sarnacki, S., Helfre, S., Philippe-Chomette, P., Boccon-Gibod, L., . . . Neuenschwander, S. (2008). Preoperative Wilms tumor rupture. Cancer, 113(1), 202-213. doi:10.1002/cncr.23535
4.Slasky, B. S., Bar-Ziv, J., Freeman, A. I., & Peylan-Ramu, N. (1997). CT appearances of involvement of the peritoneum, mesentery and omentum in Wilms tumor. Pediatric Radiology, 27(1), 14-17. doi:10.1007/s002470050053 Read More

Authors:  Grundlehner Paul,  Gibson Donald

Keywords:  Wilms ,  Recurrence ,  Intraperitoneal

Lish James,  Richardson Randy,  Lin Alice

Final Pr. ID: Poster #: CR-015

Traumatic laryngotracheal transection is an uncommon occurrence most often secondary to blunt trauma to the neck. The most commonly described mechanism is a “clothesline” injury or strangulation, involving high speed impact of the neck across a chain, rope, chord, or strap, usually associated with the use of a motor or recreational vehicle. It is often instantaneously fatal, and those who survive may have severe respiratory compromise requiring immediate advanced airway placement, or astonishingly, they may be asymptomatic. Tracheal transection may be identified when laryngoscopic intubation fails, during the placement of a surgical airway, or during initial CT or bronchoscopic evaluation.

We describe an 8-year-old male who experienced blunt neck trauma and was intubated successfully in the pre-hospital setting. Initial radiographic evaluation was significant for severe subcutaneous emphysema and pneumomediastinum. Bilateral thoracostomy tubes were placed. Initial CT evaluation again showed extensive pneumomediastinum without pneumothorax. Four days after initial hospitalization the patient was extubated without difficulty. Post-extubation chest x-ray showed irregular tracheal borders with focal hyperlucency adjacent the mid-cervical trachea in the former position of the endotracheal tube cuff. Repeat CT of the chest showed complete tracheal transection of the mid-cervical trachea. The patient subsequently underwent surgical repair and was discharged without complication. This is the first reported case of traumatic tracheal transection not identified on initial CT examination secondary to the position of the endotracheal balloon, with subsequent discovery of the complete transection on the post-extubation radiograph.

There is 1 reported case of tracheal transection identified on initial CT evaluation in the presence of a well-positioned endotracheal tube. Additionally, there is 1 reported case of tracheal transection not identified on initial CT evaluation, however the patient was not intubated and had minimal symptoms. Tracheal transection was confirmed via bronchoscopy in that case.

Tracheal transection is rare traumatic injury that can be difficult to identify. High clinical suspicion and careful examination with multiple modalities is often necessary to make a definitive diagnosis. Read More

Authors:  Lish James,  Richardson Randy,  Lin Alice

Keywords:  tracheal resection ,  neck trauma ,  airway

Rapp Jordan,  Mallon Mea

Final Pr. ID: Poster #: CR-016

A 15 year old female with no significant past medical history except for long standing dysphagia and intermittent chest pain presented for a frontal and lateral radiograph. The x-ray showed a long segment density along the right heart border concerning for mediastinal mass. The patient subsequently underwent a contrast enhanced CT. Diffuse circumferential thickening of the esophagus began just below the thoracic inlet and extending for approximately 17cm to the level of the esophageal hiatus.

Evaluation of the esophageal lumen was performed at our institution utilizing reduced pediatric dose pulsed fluoroscopy with a barium esophagram. While the cervical and upper 1/3 of the thoracic esophagus had a normal lumen diameter and contour, there was irregular contractility and motility throughout the upper esophagus. The lower 2/3 showed narrowing which did distend with barium passage.

At this juncture a biopsy of the lesion was performed with the resulting pathology consistent with a leiomyoma. Preoperative planning MRI was then undertaken. As seen with the CT, diffuse circumferential thickening of the esophagus began just below the thoracic inlet with progressive thickening continuing distally to a maximum thickness just above the GE junction.

The patient subsequently went on to have an Ivor-Lewis esophagectomy with gastric pull through. The diagnosis of diffuse esophageal leiomyomatosis was confirmed by pathology.

Diffuse esophageal leiomyomatosis (DEL) was probably first described by Hall in 1916 in a case report of a 17 year old female who died of starvation due to dysphagia, with the diagnosis subsequently made on autopsy. While some cases of DEL are sporadic, as in our case, there is a well-established association with the x-linked Alport Syndrome, especially in the pediatric population. Up to 5% of Alport patients are affected by DEL and as much as 2/3 of pediatric patients with DEL carry the diagnosis of Alport Syndrome. Esophageal-Vulvar syndrome, characterized by leiomyomata of both the vulva and esophagus, presents with findings of DEL on imaging in many cases, often in young adult females. While presentations may vary, the majority of patients present with long standing dysphagia. An Iver-Lewis esophagectomy with a gastric pull-through is the treatment of choice. Read More

Authors:  Rapp Jordan,  Mallon Mea

Keywords:  Esophagus ,  Leiomyomatosis