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

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Rapp Jordan, Mallon Mea

Keywords: Esophagus, Leiomyomatosis

Fetal MR imaging plays a continuously increasing role as an adjunct to routine prenatal ultrasound examinations in confirming and clarifying prenatal abnormalities, usually at an earlier gestational age. It also has a critical role in parental counseling, prenatal and postnatal surgical planning, and delivery method. Our pictorial review demonstrates a variety of common and less typical congenital pathology. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Machnitz Judit, Kazmi Faaiza, Mallon Mea, Poletto Erica, Malik Archana, Urbine Jaqueline

Keywords: Fetal MRI, Postnatal correlation

The rare entity of an absent pulmonary artery has appeared in the literature since 1868, with most cases associated with congenital heart disease of various types. It has also long been observed that the absent pulmonary artery is contralateral to the aortic arch in almost every case. Isolated absence of a single pulmonary artery without associated congenital heart disease is less common, and these patients may present at any time from prenatal screening, neonatal period, early childhood, or even adolescence and adulthood. We will discuss the embryologic origins, clinical presentations, expected imaging findings, and treatment options based on patient ages from newborn to adolescence. In neonates with an isolated absent pulmonary artery, a patent ductus arteriosus will allow for continued systemic blood supply. Even early on, narrowing of the PDA may be seen as involution is inevitable without intervention. The lung parenchyma is typically preserved, without yet evidence of hypoplasia or oligemia. Once the PDA has closed, robust collateral formation will occur. As patients age without repair, the lung parenchyma may become hypoplastic with diminished lung volumes and vascular markings. Findings suggestive of recurrent infection such as bronchiectasis may also be evident. Early discovery and treatment is ideal as this will allow for prevention of long term sequelae and the greatest restoration of lung function as the options for repair are limited in the older patient. There is no universal standard approach for repairing the underlying mechanism of providing blood flow to the intrapulmonary pulmonary artery. Early intervention in neonates included PDA stenting or anastomosing the main pulmonary artery with the intrapulmonary pulmonary artery using a synthetic graft. Patients that present after the neonatal period are not likely to be eligible for surgical repair. The most common long term effect of an absent pulmonary artery is pulmonary hypertension, seen in 40% of patients. The entity of isolated unilateral absence of a pulmonary artery is rare, however demonstrates typical cardiothoracic findings depending on age at presentation. Understanding of embryology, specifically the 4th and 6th primitive aortic arches, allows one to understand why this malformation occurred and what findings to expect on imaging. The maintained PDA is vital for early lung blood supply and development and can aid in repair. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Rapp Jordan, Poletto Erica, Urbine Jaqueline, Malik Archana, Kazmi Faaiza, Mallon Mea

Keywords: Pulmonary artery, congenital, CTA

Hypoxic-ischemic encephalopathy is a potentially devastating neurological diagnosis for which prompt recognition is crucial for patient management. The appearance of HIE on imaging depends on the duration and severity of the hypoperfusion injury, which can range from global to subtle. As such, the differential diagnosis is wide, including infectious, metabolic, and congenital dysmyelination causes.<b> </b>It is also critical for the pediatric radiologist to be aware of possible confounding cases when presented with imaging features seen in HIE which would significantly change management. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Misiura Anne, Urbine Jaqueline, Mallon Mea, Malik Archana, Kazmi Faaiza, Poletto Erica

Keywords: Hypoxic, Infection, Encephalopathy

The duplication of structures in the body has been a curious topic to the field of medicine for centuries. It is rare to find a radiologist who has not seen at least one duplicated or partially duplicated organ, usually of the genitourinary system, and often incidentally. While implications of GU duplication have been study previously, often due to infertility or renal issues, other organ system duplications and their implications to the patient often remain a mystery. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Misiura Anne, Kazmi Faaiza, Poletto Erica, Mallon Mea, Malik Archana, Urbine Jaqueline

Keywords: Congenital, duplication, organs

Small round blue cell tumors (SRBCT) are a category of malignant tumors that share the characteristic histologic feature of small round undifferentiated cells. These tumors predominantly affect the pediatric population. While SRBCT are similar at the cellular level, their location, imaging characteristics, clinical manifestations, and outcomes are widely variable. The purpose of this educational exhibit is to provide a pictorial review of small round cell blue tumors and to highlight key imaging findings that will aid the radiologist when faced with such tumors. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Yoon Susan, White Stacy, Poletto Erica, Urbine Jaqueline, Malik Archana, Mallon Mea, Kazmi Faaiza

Keywords: Small round blue cell tumors