Kaloianova Maria,  Naidoo Jaishree,  Thomson Heather,  Bhengu Louisa

Final Pr. ID: Poster #: CR-002

Krabbe disease is an autosomal recessive leukodystrophy that presents clinically with regression of milestones, excessive irritability and inconsolable crying. The pathologic basis of the disease is due to abnormal myelin metabolism resulting from a deficiency in the galactocerebrosidase enzyme with subsequent white matter destruction.
Although optic atrophy is a classic presentation of Krabbe disease, we report two patients who are biological brothers presenting with optic nerve enlargement in addition to other typical MR imaging features of Krabbe disease, thereby confounding the initial diagnosis.

Krabbe disease, also known as globoid cell leukodystrophy, is a lysosomal function disorder which ultimately results in demyelination and dysmyelination of white matter.
Worldwide incidence of Krabbe disease has been shown to be 1 in 100 000-200 000, with 1 in 150 000 live births reported in Europe (1, 2). The incidence in the South African population has not been well established.

Case Report 1:
Patient 1 presented in February 2012 to the paediatric neurodevelopmental clinic at 7 months of age with excessive inconsolable crying, regression of milestones, numerous café au lait macules and large eyes. Birth history was non-contributory.
MRI of the brain was done, demonstrating hypertrophy of the optic nerves and multiple other cranial nerves bilaterally (see figure 1).
High signal intensities were noted within the white matter of the brachium pontis, cerebellar dentate nuclei and corona radiata with a significant background of cortical and white matter atrophy (see figure 2).

Patient 1 died at one year of age with a provisional diagnosis of Neurofibromatosis I (NFI). No specific tests for Krabbe disease were performed prior to his death.

Case Report 2:
Patient 2 presented in November 2014 at 5 months of age with regression of milestones, excessive crying which was difficult to soothe, numerous café au lait macules, large eyes and a relative macrocephaly. Birth history was non-contributory and the child developed normally up until 3 months of age.
Blood tests for amino acids and organic acids, as well as liver and renal functions were normal. CSF lactate and glycine levels were also normal.

Specific enzyme testing for Krabbe disease was performed for patient 2 in Philadelphia, United States. Results revealed the galactocerebrosidase enzyme value to be very low (0.07). This is in the range of patients affected with Krabbe disease.
Patient 2 died shortly after the diagnosis of Krabbe disease was confirmed.

MRI brain scan of patient 2 demonstrated markedly hypertrophied optic nerves (see figures 3 and 4). Increased T2 and T2 Flair signal intensities of the white matter of the brachium pontis and the cerebellar dentate nuclei (see figure 5). The midbrain, pons and cerebellum also demonstrated increased T2 and T2 Flair signal intensities with a significant background of cortical and white matter atrophy (see figure 6).

PLEASE NOTE: the discussion related to Krabbe disease in this case review has not been included here due to charachter limitations. In addition, 6 images in total will be included should this case report be accepted for presentaton. Read More

Authors:  Kaloianova Maria,  Naidoo Jaishree,  Thomson Heather,  Bhengu Louisa

Keywords:  Krabbe disease ,  leukodystrophy ,  globoid cell leukodystrophy ,  optic nerve enlargement

Shelmerdine Susan,  Semple Thomas,  Spencer Helen,  Pillai Anjay,  Owens Catherine

Final Pr. ID: Poster #: CR-004

To evaluate the radiographic and CT appearances of filamin A (FLNA) mutation related lung disease and review the available medical literature regarding this new entity. Read More

Authors:  Shelmerdine Susan,  Semple Thomas,  Spencer Helen,  Pillai Anjay,  Owens Catherine

Keywords:  Lung ,  CT ,  Interstitial Lund Disease ,  ChILD classification ,  Emphysema

Supakul Nucharin

Final Pr. ID: Poster #: CR-005

To demonstrate an unusual association of VECTERL and uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndromes in fetal MRI with post mortem MRI correlation. Read More

Authors:  Supakul Nucharin

Keywords:  VECTERL ,  VATER ,  OHVIRA ,  Herlyn-Werner-Wunderlich syndrome ,  Fetal MRI

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

Final Pr. ID: Poster #: CR-006

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

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

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

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

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

Choi Young-youn

Final Pr. ID: Poster #: CR-009

Hemangioma occurs mainly in soft tissue but rarely be shown in bone. It is benign vascular bone tumors that account for 1% of all primary bone tumors. It is also called hamartoma because it is proliferating tumor originated from bone tissue. Most prevalent sites of intraosseous hemangioma are vertebrae and skull. Within the calvarium, the parietal bone is most commonly involved followed by the frontal bone. Within the facial skeleton, the mandible, maxilla, and nasal bones are involved. Hemangioma of the maxilla is very rare in newborn period. We experienced a neonatal case of intraosseous hemangioma of the right maxilla treated with embolization in an early infant period.
Read More

Authors:  Choi Young-youn

Keywords:  intraosseous hemangioma ,  maxilla ,  embolization ,  newborn

Choi Young-youn

Final Pr. ID: Poster #: CR-011

Hallermann-Streiff syndrome (HSS) is a very rare congenital disorder associated with characteristic head and face abnormalities include bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and many ophthalmic disorders. Many patients die during infancy because of life-threatening complications, such as respiratory and cardiac problems.
Read More

Authors:  Choi Young-youn

Keywords:  characteristic head and face abnormalities ,  antenatal sonography ,  thin tubular bones ,  widely opened fontanelle with sutures ,  flattened parietal bone ,  mid-facial hypoplasia ,  failure to thrive

Chopra Mark,  Barrett Hannah,  Hutchinson J.,  Kiho Liina,  Arthurs Owen

Final Pr. ID: Poster #: CR-012

Ductus Arteriosus calcification is a poorly comprehended pathology occasionally reported on chest radiographs, more commonly on CT. The purpose of this educational abstract is to present the concepts surrounding ductal arteriosus (DA) calcification and reviews the literature to date.
We retrospectively searched the main medical literature (PubMed, MEDLINE, CINAHL and Google scholar databases) using the following keywords: “ductus arteriosus”, “ligamentum arteriosum”, “calcification”, “ductal”, “patent ductus arteriosus”, “children”, “paediatric”. Articles regarding ductus arteriosus calcification were further evaluated for citations.

Sixteen articles were found which dated back over nearly a century. Of these eight concerned a paediatric population and very few had histological confirmation. The majority highlighted that ductal calcification is more prevalent than previously thought. Ductal calcification was initially reported on the chest roentgen-ray in 1931 by Weiss. The increasing prevalence has been compounded by the use of the greater spatial resolution offered by modern CT scanners. A study in 2012 showed up to a third of children have ductal calcification on CT, with peak incidence is towards the end of the first decade in girls. There is conflicting opinion regarding the pathophysiology of ductal calcification, which may be either ductal aneurysmal thrombus regression, or more likely ligamentum arteriosum intimal and medial wall calcification.

This literature review illustrates the general paucity of histological data and suggests that the autopsy evidence favours intimal and medial wall calcification. Read More

Authors:  Chopra Mark,  Barrett Hannah,  Hutchinson J.,  Kiho Liina,  Arthurs Owen

Keywords:  Ductus arteriosus calcification ,  ligamentum arteriosum

Chopra Mark,  Barrett Hannah,  Hutchinson J.,  Kiho Liina,  Arthurs Owen

Final Pr. ID: Poster #: CR-013

Ductus Arteriosus calcification is a relatively common, typically unreported feature on plain film radiography. The more recent literature quotes a prevalence on unenhanced CT of between 37-61% of children and a peak at the age of 6-10 years. Adult studies have shown that calcification of the ligamentum arteriosum can occur alone or be associated with atherosclerotic and/or granulomatous calcification. We report two cases in whom they were identified as incidental findings on forensic post mortem CT, for whom we obtained histological confirmation.

Case 1: An 8 month old child who died in non-suspicious circumstances had incidental ductal arteriosus calcification reported on post mortem CT, following unremarkable skeletal survey. Intimal mural calcification was reported on histology at autopsy.

Case 2: A 19 month old child who died of aspiration underwent full skeletal survey and PMCT as part of the pre-autopsy imaging assessment. The skeletal survey revealed incidental ductus arteriosus calcification, initially reported as PDA clip, with correlation at CT. Intimal and medial mural calcification was reported on histology at autopsy.

These cases showed that ductal calcification was intimal and medial in nature. This is consistent with the current literature regarding mural calcification rather than thrombus regression calcification. Read More

Authors:  Chopra Mark,  Barrett Hannah,  Hutchinson J.,  Kiho Liina,  Arthurs Owen

Keywords:  Ductus arteriosus calcification ,  Post mortem ,  Non-accidental injury

Vargas M Cecilia,  Crido Silvina,  Quintero Karina,  Alonso Jose,  Rizzi Ana,  Pibernous J,  Lipsich Jose,  Moguillanky Slvia

Final Pr. ID: Poster #: CR-018

Aortic dissection in children is often associated with congenital heart disease (bicuspid aortic valve or aortic coarctation), collagenopathies or serious injuries. It rarely arises as a differential diagnosis in the presence of thoracic or abdominal pain in an apparently healthy child. Early diagnosis and treatment is crucial to their survival.
Our purpose is describe the clinical and images characteristics that allowed to diagnose . Read More

Authors:  Vargas M Cecilia,  Crido Silvina,  Quintero Karina,  Alonso Jose,  Rizzi Ana,  Pibernous J,  Lipsich Jose,  Moguillanky Slvia

Keywords:  aortic dissection ,  stent-grafts ,  imaging ,  Chronic hypertension

Utz Norbert,  Daumer Ilona,  Katoh Marcus

Final Pr. ID: Poster #: CR-022

To present two rare cases of spondylodiscitis of the infant age group who refused to walk and stand. Both had no fever and showed only mild laboratory signs of infection with slight CRP and ESR elevation without leukocytosis. Read More

Authors:  Utz Norbert,  Daumer Ilona,  Katoh Marcus

Keywords:  Spondylodiscitis ,  Toddler ,  MRI

Allbery Sandra,  Powers Andria,  Love Terri,  Wheelock Lisa

Final Pr. ID: Poster #: CR-032

We present a case of an 18YO male high school baseball player with acute onset posterior pain in his non-throwing left shoulder, the leading shoulder in his batting swing. Pain began on a missed attempt at hitting an outside pitch. The pain only occurred when he was batting and resulted in subsequent loss of batting power and accuracy. Patient was asymptomatic when he was not batting. Prior to the acute event, patient had low grade pain in this location during intermittent at bats. Physical exam showed 1-2+ left shoulder posterior instability and mildly asymmetric left less than right shoulder strength. He had negative Neer, Whipple, Speed’s, and Hawkin’s tests. MRI left shoulder showed posterior labral tear with paralabral cyst. Patient underwent laparoscopic posterior labral repair with placement of four anchoring sutures and Bankart reconstruction. He did well post-operatively, returning to preinjury strength and range of motion in four months and returning to play in 6 months.
Batter’s shoulder is a rare condition recently recognized in the orthopedic literature and has not been reported to our knowledge in the radiologic literature. Although the adolescent/young adult spectrum of shoulder injuries in the throwing arm have been well described, injury types and mechanisms involving the non-throwing arm are not commonly known. The mechanics of hitting places considerable stress on the leading shoulder. Biomechanics studies by Welch CM et al show that as the hitter slides forward, the force applied by the front foot equals 123% of body weight and the hip segment rotates to a maximum speed of 714 degrees/second. This is followed by maximum shoulder segment velocity of 937 degrees/second and maximum linear bat velocity of 31 m/second. During a missed pitch, these forces are magnified due to lack of a counterforce against the dynamic posterior pulling force on the lead shoulder. Athletes with labral tear of the leading shoulder during batting (Batter’s shoulder) have a better prognosis than throwing arm labral tear, with approximately 90% returning to previous level of play.
This exhibit will display biomechanics, pre-operative and post-operative MRIs, and intra-operative laparoscopic images of Batter’s Shoulder. Read More

Authors:  Allbery Sandra,  Powers Andria,  Love Terri,  Wheelock Lisa

Keywords:  Hitter's shoulder ,  Posterior labral tear ,  Posterior shoulder instability ,  Arthroscopy ,  Batter's shoulder

Lewis Heidi,  Kucera Jennifer

Final Pr. ID: Poster #: CR-033

Atretic cephalocele is a rare type of neural tube defect that occurs in the parietal or occipital scalp. Most cases present postnatally with a scalp nodule which may also have associated skin and hair abnormalities. We will present a case of atretic cephalocele diagnosed with fetal MRI as well as two additional cases of postnatally diagnosed atretic cephalocele in different patients.

A 26 week gestational age male fetus was found to have ventriculomegaly on routine OB ultrasound and was referred to maternal fetal medicine. Further ultrasound imaging demonstrated features suspicious for a posterior fossa encephalocele. A fetal MRI was then performed which demonstrated imaging findings consistent with an atretic cephalocele.

The imaging findings associated with atretic cephalocele including embryologic positioning of the straight sinus, the “spinning top” appearance of the tentorial incisura, and the “cigar shaped” CSF tract in the interhemispheric fissure will be illustrated in the exhibit using both fetal and postnatal MRI. Although the exact embryological development of atretic cephaloceles is not completely understood, the proposed mechanisms will be discussed. A brief summary of the associated syndromes and clinical outcomes reported in the literature will be presented.

Atretic cephalocele is a rare condition that is usually diagnosed postnatally with several characteristic imaging findings. These same abnormalities can also be seen on fetal MRI which can lead to an earlier diagnosis and more appropriate family counseling. Read More

Authors:  Lewis Heidi,  Kucera Jennifer

Keywords:  atretic cephalocele ,  Fetal MRI

Chen Alan,  Kucera Jennifer

Final Pr. ID: Poster #: CR-035

A 10-year-old female with neurofibromatosis type 1 and severe dysplastic scoliosis, presented with a two-month history of difficulty ambulating due to lower back pain. The patient did not have neurological symptoms. An MRI of the thoracolumbar spine demonstrated subluxation of the right tenth and eleventh ribs through the neural foramina, causing mass effect on the thecal sac, but at T9-T10 without abnormal cord signal or cord compression. Several clusters of neurofibromas were present along the right ribs and paravertebral soft tissues at these levels. CT evaluation was performed for greater osseous definition, which confirmed the findings. The patient underwent complex posterior spine fusion and segmental spinal instrumentation, which included T9-T10 thoracoplasty, rib resections, and multiple Ponte osteotomies.
Cases of rib head protrusion into the central canal in the setting of dystrophic scoliosis have been documented in only a limited sample of case reports. The angulated short-segment curvature in dystrophic scoliosis causes vertebral body rotation, foraminal enlargement, spindling of transverse process, and penciling of the apical ribs. These changes can alter the articulation of the rib along the spinous process. The enlarged foramina also create a space into which a rib may displace. As a result, in most reported cases, the subluxed ribs were on the convex apex of the curve in the mid-to-lower thoracic region. The risk of cord injury makes complete depiction of the anatomy crucial for surgical management. Read More

Authors:  Chen Alan,  Kucera Jennifer

Keywords:  rib head protrusion ,  dystrophic scoliosis ,  spine

Sharma Ravi,  Bohn David,  Sharma Neal,  Stanford Richard

Final Pr. ID: Poster #: CR-038

Several possible etiologies for focal hepatic steatosis have been explored to date, and in this case of a 14 year old female patient, the hepatotoxic side effect of Gabapentin was clinically addressed as a possible, very rare culprit. There is extremely limited data on the hepatotoxic effects of gabapentin and only a few individual case reports of liver injury from gabapentin have ever been published. The patient was started on Gabapentin by her ENT physician for ear pain approximately three months prior to her imaging workup. Since starting the medication, she had developed symptoms of nausea, vomiting, and right upper quadrant abdominal pain. Her physician referred her for radiologic evaluation of her abdominal symptoms. Read More

Authors:  Sharma Ravi,  Bohn David,  Sharma Neal,  Stanford Richard

Keywords:  MRI ,  Hepatotoxicity ,  Steatosis ,  Gabapentin ,  Pain

Garg Vasant,  Partovi Sasan,  Vasavada Pauravi,  Weinert Dayna,  Berlin Sheila,  Mcdavid Lolita,  Sivit Carlos

Final Pr. ID: Poster #: CR-040

We present a rare Case Report Exhibit of a 4-year child with myositis ossificans secondary to non-accidental trauma. The child presented to the ER complaining of a headache. Head CT was unremarkable. However, initial physical examination revealed numerous bruises over the lower abdomen and thighs including belt marks. The patient also demonstrated restricted range of motion. A skeletal survey showed multiple remote fracture deformities and myositis ossificans extending the length of both femurs. Although myositis ossificans frequently occurs in athletes who sustain blunt injury, this unfortunate case occurred secondary to non-accidental trauma and specifically the caregiver intentionally standing on the patient’s legs. Pediatric radiologists should be mindful of non-accidental trauma as a potential cause of myositis ossificans, especially in very young children and when multifocal. Read More

Authors:  Garg Vasant,  Partovi Sasan,  Vasavada Pauravi,  Weinert Dayna,  Berlin Sheila,  Mcdavid Lolita,  Sivit Carlos

Keywords:  myositis ossificans ,  non-accidental trauma ,  child abuse

Green Jared,  Jaju Alok,  Richard Jamie

Final Pr. ID: Poster #: CR-047

A 17-month-old female presented with a one-month history of abnormal soft tissue protruding from the vaginal introitus.

The patient’s past medical history was significant for hemi-hypertrophy of the left lower extremity. Physical examination demonstrated normal external genitalia, with pink solid tissue protruding from the vagina posterior aspect, and mild associated white fluid discharge. Laboratory analysis revelaed a normal CBC, serum HCG and AFP.

An ultrasound examination of the pelvis demonstrated a heterogeneous echogenicity soft tissue mass with scant internal vascularity centered in the vagina and cervix, measuring approximately 4.0 x 2.3 x 2.5 cm.

The patient’s clinical and imaging findings were most concerning for malignancy, namely vaginal rhabdomyosarcoma, so consultation was requested from Pediatric Surgery and Oncology. As a result of these consultations, the patient was scheduled for vaginoscopy with biopsy under general anesthesia, as well as surgical port placement due to the high suspicion for malignancy. Also to be performed under the same anesthetic was a CT examination of the chest and MR examination of the pelvis.

Vaginoscopy revealed a “pebbly appearance” of the vaginal walls, which also reportedly “felt thickened” on digital exam. Multiple surgical biopsy specimens were obtained from the visibly abnormal areas.

MR examination immediately post biopsy showed circumferential mural thickening of the cervix and vagina, with a more prominent area of soft tissue thickening at the level of the vaginal introitus. The areas of mural thickening appeared T1 and T2 signal isointense with mild post-contrast enhancement and no evidence of abnormal restricted diffusion. No focal mass was identified. CT examination of the chest was normal.

Histopathologic analysis revealed a benign lesion composed of a relatively small number of spindle cells embedded in a loose fibrous stroma. No significant numbers of mitoses or atypia were observed, including in the lining squamous epithelium. These features were most consistent with a fibroepithelial stromal polyp.

In light of the pathology findings, the port implant was removed, and the patient has since undergone surveillance vaginoscopy examinations.

This case illustrates MRI findings of a rare benign condition which may mimic vaginal rhabdomyosarcoma on the basis of clinical and ultrasound findings. MRI demonstrating an absence of aggressive features may help to suggest this rare differential consideration. Read More

Authors:  Green Jared,  Jaju Alok,  Richard Jamie

Keywords:  Vaginal ,  Infant ,  Mass

Golden Eleza,  Simoneaux Stephen,  Dickson Paula

Final Pr. ID: Poster #: CR-049

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

Authors:  Golden Eleza,  Simoneaux Stephen,  Dickson Paula

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

Henault Kathryn,  Kanev Paul,  O'loughlin Michael

Final Pr. ID: Poster #: CR-054

Congenital glioblastoma multiforme (cGBM) is the rarest type of congenital brain tumors, constituting approximately 3.5% of cases according to the latest literature, with roughly 60 cases published worldwide. This specific presentation can be defined as ‘definitely congenital’, based on the 1964 classification of congenital tumors by Solitare and Krigman. The case report discusses the clinical presentation, radiologic and histologic findings, treatment, and prognosis of cGBM.

The tumor was first detected on an ultrasound at 31 weeks gestation, performed for a clinical diagnosis of mild oligohydramnios, revealing an unexpected large intracranial lesion. Prior to this finding, the pregnancy course was uneventful - the fetus was naturally conceived by a 30-year-old G2P1001 without history of infection, radiation, or trauma. No concerning maternal past medical history or use of drugs/alcohol during pregnancy. No family history of CNS malignancy was documented. MRI performed at 31 3/7 weeks confirmed a large complex cystic and solid mass lesion, bigger than previously measured on the aforementioned ultrasound, with mixed T1 and T2 signal within the left parietal/occipital lobe. Findings were concerning for a mass lesion, specifically a GBM given the size and complex signal characteristics. A second ultrasound preformed 12 days later showed even further growth, raising suspicion for a rapidly enlarging tumor. A pediatric neurosurgeon and maternal fetal medicine team following the patient had preemptively decided to deliver the fetus at 36 weeks due to increasing macrocephaly, with a plan for postnatal biopsy to establish pathology before a definitive treatment plan was ascertained. Unfortunately the mother presented to the clinic at 33 1/7 weeks with no fetal movement and an ultrasound confirmed intrauterine demise. After a classic Cesarean section, an autopsy confirmed a diagnosis of cGBM. No other congenital abnormalities were revealed.

Although fetal brain tumors are exceedingly rare, it is imperative to diagnose them in-utero due to potential prenatal and postnatal complications. Co-morbidities such as polyhydramnios, spontaneous intracranial hemorrhage, dystocia during delivery, and immediate postnatal heart failure should be continually evaluated for. Knowledge of an intracranial mass will allow providers to appropriately plan the mood of delivery and immediate postnatal course with necessary specialists available for immediate intervention. Read More

Authors:  Henault Kathryn,  Kanev Paul,  O'loughlin Michael

Keywords:  congential brain tumor ,  glioblastoma multiforme

Colleran Gabrielle,  Lee Edward,  Rea David,  Brenner Clare

Final Pr. ID: Poster #: CR-056

Esophageal bronchi are a rare form of communicating bronchopulmonary foregut malformations (CBPFM) that can be seen in association with esophageal atresia.

Esophageal bronchi are rare but important causes of an opaque hemithorax on chest radiograph. This is especially pertinent in the setting of esophageal atresia (EA) and tracheo-esophageal fistula (TEF) and VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) anomalies as these conditions are associated with a higher incidence of esophageal bronchi.

The purpose of this case report series is describe the pertinent radiological features in four patients with esophageal bronchi.
Read More

Authors:  Colleran Gabrielle,  Lee Edward,  Rea David,  Brenner Clare

Keywords:  VACTERL ,  oesophageal bronchus ,  CT ,  UGI

Abdulla Sarah,  Tadros Sameh,  Squires Judy

Final Pr. ID: Poster #: CR-058

The female anatomic equivalent of the male processus vaginalis is the canal of Nuck. The canal is formed from a small peritoneal protuberance from the round ligament that extends through the inguinal ring, into the inguinal canal, and terminates in the labia majora. Obliteration of the canal occurs in a superior to inferior direction and usually completes within the first year of life. Non-closure results in a persistent canal of Nuck. Very rarely herniation of abdominal and pelvic contents into the canal of Nuck can occur, much less commonly in females than in the male equivalent. Hernias can present at any age but are most common in children. Recognition of this entity is especially important in cases of ovarian herniation due to the risk of incarceration.
We will provide a review normal anatomy, potential canal contents, the imaging appearance on ultrasound, CT, as well as MRI, and discuss differential diagnosis using cases of canal of Nuck hernia in 4 patients aged 22 days though 17 years. Read More

Authors:  Abdulla Sarah,  Tadros Sameh,  Squires Judy

Keywords:  Canal of Nuck ,  hernia ,  ultrasound ,  MRI ,  CT

Massé-bouillé Guy-anne,  Taddeo Danielle,  Jamoulle Olivier,  Frappier Jean-yves,  Wilkins Jean,  Miron Marie-claude

Final Pr. ID: Poster #: CR-060

Anorexia nervosa is a condition with a wide range of presenting signs and symptoms. Our report describes an adolescent suffering from restrictive anorexia nervosa (no purging) who presented with a Body Mass Index (BMI) of 9,73 kg/m² and asymptomatic spontaneous subcutaneous emphysema, pneumomediastinum, pneumoperitoneum and pneumatosis intestinalis. History revealed fatigue, lower limbs weakness, jaw pain and swollen neck over the last few weeks but no abdominal complaints. She was successfully managed with supportive care and progressive enteral nutrition leading to a favourable outcome with significant weight gain (BMI of 12,1 kg/m² at discharge). Her clinical course was complicated by refeeding syndrome and Rotavirus gastro-enteritis leading to a pre-shock state. We hypothesize that her clinical presentation was attributable to severe chronic undernourishment. Previous reports support the theory that severe undernourishment can lead to altered interstitial wall composition, which could result in migration of air through weakened alveolar or intestinal wall. This case is of interest given that spontaneous pneumoperitoneum and pneumatosis intestinalis have rarely been described in association with anorexia nervosa, especially in an asymptomatic patient. In addition, her favorable outcome suggests that these patients can effectively be managed with conservative care. Read More

Authors:  Massé-bouillé Guy-anne,  Taddeo Danielle,  Jamoulle Olivier,  Frappier Jean-yves,  Wilkins Jean,  Miron Marie-claude

Keywords:  anorexia nervosa ,  pneumatosis intestinalis ,  pneumoperitoneum

Youssfi Mostafa

Final Pr. ID: Poster #: CR-062

Esophageal radiolucent foreign bodies can be overlooked in infants since the symptoms are usually nonspecific. Chest X-Rays are often the initial diagnostic tool. The lateral view is key since it may reveal anterior bowing and/or focal narrowing of the intra-thoracic trachea which should alert the radiologist to the possibility of radiolucent esophageal foreign body and the need for an Esophagram. We present two cases that illustrate the importance of this radiographic finding. Read More

Authors:  Youssfi Mostafa

Keywords:  Esophageal ,  Radiolucent ,  Foreign Body

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

Final Pr. ID: Poster #: CR-064

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

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

Keywords:  Optic nerve ,  aplasia ,  congenital

Lacroix Caroline,  Ahyad Rayan,  Gupta Abha,  Chavhan Govind

Final Pr. ID: Poster #: CR-065

Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor, of low malignant potential. It is typically seen in adults, but it can also less frequently affect children.

Because of its multisystem involvement, it can present in various ways both clinically and on imaging. It can present with multiple hepatic lesions and/or with multinodular lung disease simulating interstitial lung disease, infectious disease and metastatic disease among others. Multifocal bone involvement is another presentation of EHE.

One of the radiologist's daily practice challenges is that rare diseases can have significant overlap of imaging features with more frequent diagnoses (that sometimes present with atypical features). It is therefore of high relevance to know the classical and unique imaging features and signature of rare entities such as epithelioid hemangioendothelioma, in order to raise clinical suspicion when needed to direct appropriate diagnostic work-up. Our goal is to present a case of EHE, discuss possible clinical presentations and illustrate classical imaging findings. An overview of clinical implications of this diagnosis and of the available treatment options will also be provided.

Combining multisystem affection and characteristic imaging features, especially MRI features of liver lesions, radiologist can help to make early diagnosis of EHE that is rarely seen in children. Read More

Authors:  Lacroix Caroline,  Ahyad Rayan,  Gupta Abha,  Chavhan Govind

Keywords:  epithelioid ,  hemangioendothelioma ,  vascular ,  tumor ,  multisystem

Wepking Kelly,  Gill Kara,  Riedesel Erica

Final Pr. ID: Poster #: CR-068

Currarino’s Syndrome (CS) is a unique form of caudal regression syndrome characterized by triad of sacral dysplasia, anorectal malformation, and presacral mass. Additional congenital malformations of the genitourinary tract and spine may be present.

Currarino's Syndrome has a variety of clinical presentations - from asymptomatic to severe chronic constipation - depending on associated malformations. Early identification and adequate treatment prevents eventual serious complications.

Plain radiograph of the sacrum is the first diagnostic step. Ultrasound or pelvic/spinal MRI is used to better evaluate for presacral mass. Fluoroscopic enema studies may be used for further evaluation of anorectal malformation. Additional imaging of the GU tract with US and VCUG is suggested due to risk for associated GU anomaly or vesicoureteral reflux.

We present two cases of Currarino’s Syndrome which demonstrate classic imaging findings on plain film radiograph, ultrasound, and MRI.

Case 1 presented in infancy with severe chronic constipation. Abdominal radiograph demonstrated classic "scimitar" sacrum. Fluoroscopic enema demonstrated high grade anal stenosis. US and MRI of the spine and sacrum revealed large anterior sacral meningocele.

Case 2 presented at birth with imperforate anus. Abdominal radiograph demonstrated classic "scimitar" sacrum. MRI of the spine and sacrum revealed small anterior sacral meningocele. Additional GU anomalies were discovered including vesicoureteral reflux and uterine didelphis. Read More

Authors:  Wepking Kelly,  Gill Kara,  Riedesel Erica

Keywords:  Currarino's Triad ,  Sacral dysplasia ,  Presacral mass ,  Anorectal malformation ,  Case Report

Bowman Sean,  Trinh Austin,  Tuburan Smyrna

Final Pr. ID: Poster #: CR-070

A 4 day old female, born at term without complications and with reported proper prenatal care was referred to a tertiary care center after her parents were notified of an abnormal 17-OHP on newborn screening. Work-up for suspected congenital adrenal hyperplasia was initiated. An abdominal ultrasound showed a 2.8 x 3.6 x 3.7 cm heterogeneously hypoechoic right suprarenal mass with peripheral calcification and large feeding vessels. An MRI abdomen was then obtained, which showed a round circumscribed 3.6 x 3.5 x 3.4 cm T1 hypointense and T2 iso-hyperintense heterogeneously enhancing mass. The radiologist raised the suspicion for an adrenocortical tumor, with neuroblastoma or teratoma as less likely etiologies. An MIBG scan was then obtained, revealing absence of activity in the region of the known mass, further supporting the diagnosis of an adrenocortical neoplasm. This information, in addition to normal levels of VMA and HVA, reduced the likelihood that the mass was of neural crest origin. IR then performed an ultrasound guided biopsy of the right adrenal mass. Pathology reported features consistent with an adrenal cortical neoplasm and without features of neuroblastoma. Due to concern for potential aggressive behavior, pathology recommended complete surgical excision. There is a paucity of literature secondary to the extremely low incidence of congenital adrenal cortical neoplasms. Therefore, a multidisciplinary committee, which included pediatric surgery and radiology, was held. The consensus was that the mass would be best treated by, and is amenable to, surgical excision. At 28 days old, the patient underwent an open right adrenalectomy. Pathology confirmed an adrenal cortical neoplasm of uncertain malignant potential. The post-operative course was without complications. Per pediatric hematology-oncology recommendations, a nuclear medicine whole body bone scan was obtained and demonstrated no osteoblastic metastasis. The patient was discharged and will continue to follow up with hematology-oncology and endocrinology as an outpatient. As illustrated above, the early and correct identification of a potentially aggressive neoplasm by radiology accelerated the treatment course, allowing for potentially curative interventions. This case demonstrates the necessity for multidisciplinary management to include both diagnostic and interventional radiologists and to communicate an appropriate range of differential diagnoses, regardless of incidence. Read More

Authors:  Bowman Sean,  Trinh Austin,  Tuburan Smyrna

Keywords:  Adrenal ,  Tumor ,  adrenal cortical neoplasm

Yadav Vikas,  Sudhakar Sniya,  Thomas Maya,  Arunachal Gautham

Final Pr. ID: Poster #: CR-072

A 1-year-old boy with uneventful perinatal history, non-consanguineous parentage presented with global developmental delay. Family history was not contributory. There was no history suggestive of visual or hearing loss, seizures, bladder and bowel involvement or extrapyramidal symptoms. On examination, Head size was large for age with hyper pigmented nevi over right arm. There was delay involving language, motor and cognition. CNS examination revealed stance ataxia with generalized hypotonia. No obvious organomegaly was noted on abdominal examination.
MRI done in August 2014 showed signal abnormality in dorsal brainstem, dentate nuclei, bilateral thalami and basal ganglia. Gyri appeared swollen with subcortical U fiber involvement. Central white matter was spared. MRS revealed elevated borderline elevation of NAA and lactate. CT did not reveal any obvious calcification in these areas.
Based on these findings differential diagnosis of mitochondrial etiology and L2 hydroxyglutaric aciduria were considered. However, urine tests for routine organic acids were negative.
Literature search revealed findings fitting into Canavan variant disease. Consequently, urine examination showed elevated N acetyl aspartate. The ASPA gene mutation was confirmed on genetic testing.
Another case showed similar clinical presentation. However head size was normal in second case. Imaging findings were similar in nature. Genetic mutation confirmed the diagnosis.
Recognition of the Canavan Variant is important, as most of the cases would be diagnosed as mitochondrial (Leigh’s/ LBSL) or L2 hydroxyglutaric aciduria initially. This pattern recognition lead to correct genetic testing and diagnosis. Read More

Authors:  Yadav Vikas,  Sudhakar Sniya,  Thomas Maya,  Arunachal Gautham

Keywords:  Canavan disease ,  Variant ,  N acetyl aspartate ,  ASPA gene

Harvey Carly,  Allbery Sandra,  Powers Andria

Final Pr. ID: Poster #: CR-074

Juvenile Granulosa Cell Tumor of the Testis is a rare testicular tumor that falls within the category of stromal cord neoplasms. There have been less than 50 cases described in the literature with all cases being described as having a cystic component (1, 2). We present a case of a 6 month old boy presenting with unilateral scrotal swelling. Ultrasound evaluation revealed an entirely solid, hypervascular, intratesticular mass. Alpha-fetoprotein levels were negative. At surgery, radical orchiectomy was performed and pathology revealed a Juvenille Granulosa Cell Tumor.

Testicular tumors arising in the neonatal and prepubescent period are a unique set of tumors distinct from their adult counterparts. In this younger age group, germ cell tumors predominate. Of the germ cell tumors, Yolk Sac tumors are the main tumor of clinical significant, and the reason why alpha-fetoprotein is such a relevant marker (3). Stromal cell tumors account for only a small percentage of testicular tumors within this age group. When they do occur, Juvenile Granulosa Cell Tumors (JGC) predominate, particularly if the child is under 1 year of age, with this tumor type being the most common testicular tumor present at birth (3,4). JGC tumors are associated with genetic and structural anomalies of the Y chromosome, ambiguous genitalia, and contralateral undescended testis. One of their defining pathologic characteristics is positive staining with Inhibin (3).To date there are no cases of metastatic JGC tumors. In all reported cases, Sonographic evaluation demonstrates a grossly multicystic tumor (2). The adult variant of Granulosa Cell tumors can appear as a solid mass with little or no cystic component and carries the risk of metastasis of approximately 20% (2). Surgical management of testicular JGC tumors has largely been radical orchiectomy but, some studies have shown tumor sparing excision to be curative in cases with salvageable testicular parenchyma (2). This finding highlights the importance of including stromal cell tumors, particularly JGC, in the differential for solid appearing testicular masses in the neonate. With more reported cases of JGC tumors of the testes, surgical management could include a more conservative approach. Although JGC tumor of the testis is not known to be malignant, given the atypical features of this tumor and similarities with its more malignant adult counterpart, close surveillance is warranted to ensure benign course. Read More

Authors:  Harvey Carly,  Allbery Sandra,  Powers Andria

Keywords:  Juvenille Granulosa Cell Tumor ,  Testicular Tumor ,  Pediatric ,  Solid

Jen Aaron,  Iskander Paul,  Ghahremani Shahnaz

Final Pr. ID: Poster #: CR-079

Case Report:
A 14 year-old previously healthy male presented to the emergency department with weakness, fever, diarrhea, lateral right eye deviation and transient vision loss, following a week of headaches and dizziness. The symptoms began following a recent camping trip to Yosemite National Park with friends, where distant contact with squirrels and several bug bites were noted. The initial physical examination revealed additional photophobia, limited neck flexion secondary to pain, and a raised, non-tender soft tissue mass over the anterior right shin. Soon after admission, the patient developed pain in the right hip and left leg and significant lower extremity weakness. A chest X-ray demonstrated left lower lobe consolidation, a left upper lobe lung nodule, and a right upper lobe lung nodule. MRI showed multifocal osteomyelitis and multiple intraosseous, intramuscular and soft tissue abscesses. Contrast-enhanced CT angiogram demonstrated septic emboli, scarring, and atelectasis within the left lower lung with a small hydropneumothorax. Lucent lesions were also noticed in the T3-T6 vertebral bodies with increased prominence of the paravertebral soft tissue.

A lumbar puncture was found consistent with bacterial meningitis. A blood culture, CSF culture, and culture of abscess fluid from the right hip were all found to be PCR positive for Yersinia pestis, and the patient was placed on a treatment regimen of ciprofloxacin, gentamicin, and tetracycline.

Discussion:
Plague, colloquial known as the Black Death, is a zoonosis caused by the gram-negative bacterium Yersinia pestis and endemic to the Western United States and developing countries. In the modern day, plague is typically found in infected rodents and spread to humans through fleas. Three forms of plague are reported in humans: bubonic, septicemic, and pneumonic. Our patient’s presented primary septicemic plague complicated by secondary pneumonia, meningitis, and osteomyelitis. Notably, Yersinia osteomyelitis has been reported only once in the historical literature, and was likely underappreciated before the advent of MRI. This case presentation will highlight the unique imaging manifestations of the patient’s disseminated disease. Read More

Authors:  Jen Aaron,  Iskander Paul,  Ghahremani Shahnaz

Keywords:  plague ,  osteomyelitis ,  pneumonia ,  meningitis ,  sepsis

Miller Stephen,  Scrugham Jeffrey,  Pivnick Eniko

Final Pr. ID: Poster #: CR-080

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is a rare autosomal recessive disorder associated with osteosclerosis and cystic intramedullary bone lesions. However, the transition from generalized osteosclerosis in the young patient to the development of cystic intramedullary bone lesions in areas converting from red to yellow marrow in the growing child has not been previously described. We present a young man with congenital generalized lipodystrophy, followed in our clinic from age 5 years through age 14 years, and document the development over time of dramatic cystic lesions within previously sclerotic long bones. The location of these intramedullary bone cysts appears to mirror the transition of red (hematopoietic) to yellow (fatty) marrow in the maturing child. Recognition of this pattern may affect recommended physical activity and subsequent orthopedic management. Read More

Authors:  Miller Stephen,  Scrugham Jeffrey,  Pivnick Eniko

Keywords:  lipodystrophy ,  bone cyst ,  marrow