Sung Andrew,  Weiss Brian,  Trout Andrew

Final Pr. ID: Paper #: 147

Despite significant advances in delivering dose-intensive and myeloablative therapy with hematopoietic stem cell support, the survival for patients presenting with metastatic neuroblastoma remains poor, with a 3 year event free survival (EFS) of about 60%. Modern treatment protocols are based on risk stratification which incorporates age of diagnosis, tumor stage, tumor histology, and molecular and cytogenetics including MYCN amplification. ¹⁸F-FDG PET/CT can play a role in disease staging and follow up. The purpose of this study was to report FDG PET findings in a cohort of children with neuroblastoma and assess for predictive associations with MYCN amplification status. Read More

Authors:  Sung Andrew , Weiss Brian , Trout Andrew

Keywords:  Neuroblastoma, PET, Genetics

Hook Marcus,  Higgins Timothy,  Hildebrand Andrea,  Sussman Betsy,  Burke Leah

Final Pr. ID: Poster #: EDU-051

Objectives:
1. Present the use of a published algorithm for the evaluation and diagnosis of the pediatric patient with congenital skeletal dysplasia and abnormal skeletal survey.
2. Review usefulness of accurate, narrowed differential diagnosis or suspected single diagnosis in terms of confirmatory testing, treatment implications, and genetic counseling.
3. Demonstrate the utility of the algorithm when applied to recent, rare cases of congenital skeletal dysplasia at our institution, a tertiary trauma center and children’s hospital in the Northeastern United States.

Content:
We present a refined, algorithm-based approach to the evaluation and diagnosis of the pediatric patient with congenital skeletal dysplasia and abnormal skeletal survey. The algorithm optimizes evaluation of the skeletal survey in cases of congenital skeletal dysplasia, aiding in timely, accurate diagnosis. The utility of the refined algorithm is demonstrated as it was applied to recent, confirmed cases of rare skeletal dysplasias at our institution, including metatropic dysplasia and cleidocranial dysplasia.

Teaching Message:
Evaluation of the pediatric patient with congenital skeletal dysplasia and abnormal skeletal survey can be challenging, even for the subspecialty-trained radiologist. By assessing the presence or absence of discriminating imaging features and findings on skeletal survey, the interpreting radiologist can significantly shorten the differential diagnosis or in many cases suggest a single, most-likely primary diagnosis. Narrowing the differential diagnosis is helpful in guiding confirmatory molecular or genetic testing. Timely, accurate diagnosis may have significant treatment and prognostic implications for patients and their families. Read More

Authors:  Hook Marcus , Higgins Timothy , Hildebrand Andrea , Sussman Betsy , Burke Leah

Keywords:  genetic, dysostosis, dwarfism

Dicamillo Paul,  Berlin Sheila,  Vasavada Pauravi

Final Pr. ID: Poster #: CR-010

Generalized arterial calcification of infancy (GACI) is a rare, often fatal disease due to cardiovascular sequellae (cyanosis, respiratory distress, hypertension and cardiomegaly) from widespread arterial calcification and/or narrowing of medium and large diameter vessels. Other findings can include periarticular calcification, pseudoxanthoma elasticum, hearing loss, intestinal ischemia, rickets and hypo/hyperphasphatemia. A database of worldwide cases implicates genes ENPP1 and ABCC6.

Our patient presented late in gestation. Although a 20 week fetal ultrasound was unremarkable, a 36 week ultrasound showed polyhydramnios, moderate pericardial effusion and moderate to severe tricuspid regurgitation; these findings prompted a C-section delivery. Early in his course, the patient developed biventricular dysfunction, systemic and pulmonary hypertension and respiratory failure requiring mechanical ventillation. Splenic calcifications, left pelvicaiectasis and lenticulostriate vasculopathy was documented in first week of life. The thoracic aorta, pulmonary artery and coronary artery were echogenic and thickened. Etidronate therapy, a treatment used for the first months to years of life to block bone mineralization until the arterial calcifications resolve, was started within 24 hours of life. However, this therapy can and did result in the development of rickets. Genetic testing revealed two mutations in the ABCC6 gene as can be seen in early onset GACI, a subtype with risk of pseudoxanthoma elasticum; our patient did exhibit hypermobile lower extremity joints. The patient's hypertension was eventually controlled with Amlodipine. Bulging fontenelles developed, likely due to ricket-impared skull growth. Calcification/narrowing of the bilateral carotids was seen. Additional complications included chronic pulmonary disease shown to be combination of chronic aspiration, nonspecific interstitial pneumonia and mild pulmonary arterial hypertensive changes. Rickets-related rib fractures further complicated the lung disease. Failure to thrive resulted in enteric feeding. Because of the severity of our patient's disease in which 6 month mortality can be as high as 85%, the treatment has aimed to prevent progression. Significant reduction in the arterial calcium burden has not yet been achieved, however the patient survived one year of treatment. Read More

Authors:  Dicamillo Paul , Berlin Sheila , Vasavada Pauravi

Keywords:  genetics, diphosphonate, hypertension

Raju Rajiv,  Quijano Carla,  Prada Carlos

Final Pr. ID: Poster #: SCI-032

Hemihyperplasia is most classically associated with Beckwidth Wiedemann, though there are many cases which are associated with other syndromes or are idiopathic in nature. Current screening recommendations for hemihyperplasia do not distinguish between different subtypes of hemihyperplasia. The purpose of this study was to determine whether there is a statistically significant difference in incidence of development of abdominal tumors between hemihyperplasia patients with Beckwidth Wiedemann Syndrome and Non Beckwidth Wiedemann associated hemihyperplasia. Read More

Authors:  Raju Rajiv , Quijano Carla , Prada Carlos

Keywords:  Beckwidth Wiedemann Syndrome, Hemihyperplasia, Genetics

De Leon-benedetti Laura,  Martinez-rios Claudia,  Tierradentro-garcia Luis,  Kilicarslan Ozge,  Caro Domínguez Pablo,  Otero Hansel

Final Pr. ID: Poster #: EDU-079

PTEN-related hamartoma tumor syndromes (PHTS) arise from germline pathogenic variants in the Phosphatase and Tensin homolog (PTEN) gene and include a broad spectrum of autosomal dominant clinical phenotypes with overlapping features. Its diagnosis is made through genetic testing prompted by family history or clinical features. In pediatric patients the most common feature leading to genetic testing is macrocephaly, in combination with other clinical findings, presenting in early childhood.

PHTS is a multisystem disorder. Imaging findings on pediatric patients have a wide variability, but benign findings are the most common.
In this educational exhibit, we will summarize the imaging findings of pediatric patients with confirmed PTEN diagnosis, based on our experience from three large children’s hospitals.

The most common findings will be described by anatomical regions:
- Central nervous system: white matter lesions, prominence of perivascular spaces, prominence of the ventricles and extra-axial spaces, and a dysplastic gangliocytoma of the cerebellum.
- Thyroid/neck: benign lesions such as nodular goiter, follicular adenomas, colloid cysts, and features of thyroiditis and pediatric thyroid carcinoma.
- Chest/mediastinum: infrequent lesions such as sclerosing pneumocytoma or chest wall lesions.
- Nonvascular soft tissue masses: variable types of hamartomas including polyps, fibromas, and lipomas.
- Vascular soft tissue masses: hemangiomas and classic PTEN hamartoma of the soft tissues (PHOST).

At the end of our exhibit, we will include current suggested surveillance imaging protocol for these patients. Read More

Authors:  De Leon-benedetti Laura , Martinez-rios Claudia , Tierradentro-garcia Luis , Kilicarslan Ozge , Caro Domínguez Pablo , Otero Hansel

Keywords:  Radiology, Genetics, Pediatrics

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

Final Pr. ID: Poster #: CR-026

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

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

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

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

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