Beckhorn Catherine,  Lee Rachel,  Cao Joseph

Final Pr. ID: Poster #: CR-028

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

Authors:  Beckhorn Catherine , Lee Rachel , Cao Joseph

Keywords:  MRI, Genitourinary, Soft-Tissue Tumors

Farkas Amy,  Roda Manohar

Final Pr. ID: Poster #: EDU-013

Genitourinary abnormalities are frequently detected on prenatal ultrasound, with findings detected on 1 in 500 routine prenatal sonograms. Early detection of abnormalities of the genitourinary system is essential as it allows planning for further work-up and intervention and appropriate counseling of parents. Findings on prenatal ultrasound often trigger further evaluation with fetal MRI, as MRI can provide superior anatomic detail and better assess for associated findings. An understanding of the appearance of genitourinary abnormalities on fetal MRI is important to enable accurate diagnoses and effectively guide clinicians in patient management.
This educational poster highlights fetal MRI cases that demonstrate genitourinary abnormalities including bilateral renal agenesis with Potter sequence, crossed fused renal ectopia, multicystic dysplastic kidney, duplex collecting system, posterior urethral valves, patent urachus, allantoic cyst, prune belly syndrome, congenital megaureter, cloaca, bladder exstrophy, ureteropelvic junction obstruction, horseshoe kidney, and sirenomelia.
The goal of this exhibit is to provide familiarity with these findings and their clinical implications, which is particularly important for those with less fetal MRI experience. In addition, the exhibit will provide an overview of the embryology of the genitourinary system as it relates to the abnormalities to provide further context of the pathophysiology of these complex congenital conditions. Read More

Authors:  Farkas Amy , Roda Manohar

Keywords:  Genitourinary, Fetal MRI

Taylor Erin,  Graeber Brendon,  Ehrlich Lauren

Final Pr. ID: Poster #: EDU-041

Sickle cell disease (SCD) is characterized by repeated episodes of vaso-occlusion and hemolysis beginning in the pediatric period that result in serious multi-organ system complications. In particular, renal complications are often the cause of morbidity and reduced life expectancy of patients with SCD. Therefore, it is essential that radiologists be able to identify the imaging features early to help guide prompt and appropriate treatment.

Sequelae in pediatric patients include sickle cell nephropathy, infarction and papillary necrosis, and assorted glomerulopathies. These in turn can lead to altered hemodynamics, impaired urinary concentrating ability, hematuria, proteinuria, and acute and chronic kidney injury. Children with SCD are also at increased risk of asymptomatic bacteriuria and urinary tract infection. Even those children and young adults who only have sickle cell trait (SCT) rather than SCD may develop chronic kidney disease later in life and carry markedly increased risk for renal medullary carcinoma. Segmental testicular infarction can compromise fertility in patients with both SCD and SCT.

The genitourinary manifestations of SCD and SCT in the pediatric patient will be reviewed in this educational exhibit, with an emphasis on radiologic appearances. For each entity, the clinical presentation, pathophysiology, and differential diagnosis of the imaging findings will also be briefly reviewed.

The renal complications covered will include renal infarction, papillary necrosis, renal vein thrombosis (as a complication of nephrotic syndrome), urinary tract infection, hematuria, renal medullary carcinoma, and acute and chronic kidney disease. Testicular and penile sequelae of SCD including segmental testicular infarction and priapism will also be discussed. A variety of imaging modalities will be used to illustrate the various complications, including ultrasonography, computed tomography, and magnetic resonance imaging. Read More

Authors:  Taylor Erin , Graeber Brendon , Ehrlich Lauren

Keywords:  Sickle, Renal, Genitourinary

Tran Patrick,  Kang Lisa,  Gundeti Mohan,  Long Jessica,  Brown Colin

Final Pr. ID: Poster #: CR-029

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder resulting from mutations in genes encoding enzymes essential for adrenal hormone synthesis. It affects roughly 1 in 15,000 individuals and can present with ambiguous genitalia, salt-wasting, and virilization.

An 8-year-old girl with history of CAH and genitoplasty at age 2 presented with abdominal pain, brown perineal discharge, and fever (39°C). Labs were notable for leukocytosis (15 x 10^9/L).

Transabdominal ultrasound (TAUS) revealed a fluid-filled uterus and vagina with layering echoes. MRI confirmed a distended, fluid-filled uterus and vagina with layering debris. The ovaries were normal. Differential included imperforate or microperforate hymen, lower vaginal atresia, transverse vaginal septum, and vaginal outlet obstruction due to scarring.
On initial exam under anesthesia (EUA) findings of imperforate hymen were not present and placement of a speculum into an apparent narrowed vaginal introitus produced efflux of urine. Subsequent cystoscopy revealed that this channel led to the urinary bladder and a bladder catheter was placed.

Following discussion among pediatric gynecology, pediatric urology, and interventional radiology (IR), a joint EUA and drainage procedure was performed in the IR suite. A diminutive vaginal opening was identified and a cystoscope was advanced into the vagina under TAUS. The cystoscope was exchanged for a catheter and a fluoroscopic contrast vaginogram was performed, showing stricture of the vaginal introitus. Balloon stricturoplasty was performed, a Foley catheter was placed into the vagina, and the vaginal fluid was drained. The urinary bladder catheter was replaced and the bladder was decompressed.

After the procedure the patient's symptoms improved. Vaginal fluid culture grew E. faecalis. The patient was discharged with vaginal and bladder catheters in place and a 14-day antibiotic course.

Subsequent EUA by pediatric urology confirmed a single urogenital orifice with urethrovaginal communication, consistent with urogenital sinus anomaly and urethrovaginal fistula. Definitive surgery was deferred due to the patient’s age.

This case highlights the complexities of evaluating and treating children with urogenital anomalies and the importance of multidisciplinary collaboration in their management.

Final diagnosis: Vaginal outlet obstruction due to stricture managed with balloon dilation; urogenital sinus anomaly and urethrovaginal fistula secondary to CAH. Read More

Authors:  Tran Patrick , Kang Lisa , Gundeti Mohan , Long Jessica , Brown Colin

Keywords:  Interventional Radiology, Genitourinary, Urogenital Sinus

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

Final Pr. ID: Poster #: CR-047

Pallister-Hall syndrome is an exceedingly rare genetic disorder characterized by multiorgan anomalies encompassing hypothalamic hamartoma, postaxial polydactyly, bifid epiglottis, renal malformations and imperforate anus. The syndrome arises from a mutation in the GLI3 gene, which can be inherited in autosomal dominant fashion or occur de novo. A significant manifestation of Pallister-Hall syndrome is the presence of a hypothalamic hamartoma, a benign tumor of the hypothalamus. Although benign, these lesions can cause severe endocrine dysfunction by interfering with the hypothalamic-pituitary axis. Abnormal neural or glial cell migration in the tuber cinereum of the hypothalamus leads to abnormal expansion of the hypothalamus, manifesting in a spectrum of pituitary dysfunction ranging from pituitary displacement to severe pan-hypopituitarism. A well-established feature of the hypothalamic hamartomas associated with Pallister-Hall syndrome is the incidence of gelastic seizures (so-called “laughing” seizures), characterized by episodes of involuntary laughing.

A male neonate was born with polydactyly, bifid epiglottis, cryptorchidism, and Hirschsprung’s disease. The patient was additionally found to have right sided vesicouteral reflux requiring extravesical ureteral reimplantation. Genetic analysis revealed a mutation in the GLI3 gene, compatible with Pallister-Hall syndrome. Once diagnosed, the patient underwent contrast-enhanced MR imaging of the brain which demonstrated a large lobulated 2.6 x 2.0 cm suprasellar mass with encroachment posteriorly upon the midbrain and associated superior displacement of the third ventricle. The lesion showed low-grade enhancement following gadolinium contrast administration, displayed no significant abnormality on diffusion-weighted or susceptibility weighted imaging, and was isodense to brain tissue on all sequences. Serial follow-up MRIs demonstrated minimal increase in size of the non-enhancing suprasellar mass. Findings were suggestive of hypothalamic hamartoma, in keeping with the classical presentation of Pallister-Hall syndrome. Read More

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

Keywords:  Pituitary Abnormalities, Genetics, Genitourinary

Basavalingu Deepashri,  Bhutta Sadaf

Final Pr. ID: Poster #: EDU-039

- To discuss the etiopathogenesis of MRKH syndrome including new advances.

- To illustrate the varying imaging appearances of MRKH syndrome, including isolated MRKH (Type I) and MRKH with other associated congenital anomalies (Type II)

- To present a multimodality imaging approach for the diagnosis of MRKH syndrome and to distinguish it from other uterine anomalies.

- To briefly discuss similar phenotypic associations (ARCS/AUCS) in males and their identification on imaging. Read More

Authors:  Basavalingu Deepashri , Bhutta Sadaf

Keywords:  Anomaly, MRKH, Genitourinary

Chauhan Ankita,  Dillard Roger

Final Pr. ID: Poster #: EDU-040

We will discuss how to perform voiding cystourethrography (VCUG). We will illustrate typical imaging features of genitourinary pathologies in a neonate. Read More

Authors:  Chauhan Ankita , Dillard Roger

Keywords:  Vesicoureteral Reflux, Genitourinary, Neonate