Pediatric rheumatologic diseases are common in children and can have a significant negative impact on children's health and well-being. Juvenile idiopathic arthritis is the most common type of arthritis in pediatric patients worldwide. However, multiple other entities can be encountered in these patients and can be first presenting with lung manifestations. Therefore, pediatric radiologists should consider the possibility of underlying rheumatologic disease when they see certain chest imaging findings. The purpose of this educational exhibit is to review the imaging findings of pediatric rheumatologic diseases with a focus on chest imaging to illustrate the lung manifestions that can be seen in the presence of these diseases. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Salman Rida

Keywords: Rheumatology, CT, chest

3-year-old female with history of Aromatic l-amino acid decarboxylase (AADC) deficiency presented for direct intra-putaminal Dopa decarboxylase (DDC) gene therapy infusion. Pre-therapy 18F-DOPA PET brain study fused to MRI demonstrates absence of normal radiotracer uptake in the basal ganglia/putamen, consistent with history of AADC deficiency and inability to uptake and convert 18F-DOPA to 18F fluorodopamine. MRI Brain demonstrates normal appearance of the putamen. Intraoperative images from intra-putaminal DDC gene therapy infusion via a frame-based stereotactic approach. Following frame placement, 4 gene vectors delivered in a adeno-associated viral vector are infused to the putamen bilaterally. Intraoperative T2 Axial MRI confirms appropriate localization with increased signal seen in the anterior and posterior aspects of the putamen bilaterally. Post-therapy 18F-DOPA PET brain study, fused to MRI 10 weeks following intraputaminal infusions of the DDC genes coding for AADC, demonstrates development of robust 18F-DOPA uptake in the putamen, indicative of successful AADC production following gene therapy. AADC enzyme deficiency is a debilitating autosomal recessive disease due to a mutation in the Dopa decarboxylase gene (DDC). Subsequent dopamine deficiencies result in profound motor and autonomic dysfunction, developmental delay and early mortality. Mean age of diagnosis is 3.5 years, severe cases often die before age 7. While currently no cure, novel gene therapy treatments utilizing direct infusion of the DDC gene into the basal ganglia/putamen have shown promising clinical results. While anatomic imaging such as MRI are typically normal, 18F-DOPA PET scans measure the uptake of the tracer and its conversion to 18F-fluorodopamine, indicating appropriate DDC function in the basal ganglia dopaminergic nerve terminals. 18F-DOPA PET scans can be used to assess the efficacy of gene therapy by demonstrating the successful development of striatal uptake prior to improvement of clinical symptoms. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Salman Rida, Sher Andrew

Keywords: 18F-DOPA PET, gene therapy, AADC

14-year-old female presents with two-day history of fever and cough. She also reports two months history of fatigue, shortness of breath, palpitations and night sweat. Physical exam was only remarkable for systolic ejection murmur and hypertension. Relevant diagnostic testing: Microcytic anemia. LDH, uric acid AFP and HCG were normal. Negative HIV, Quantiferon and fungal culture. Negative double stranded DNA. Normal chromogranin A. Elevated plasma and urine normetanephrine levels. Chest radiograph shows a well-defined right hilar mass with hilum overlay sign excluding the possibility of a middle mediastinal mass. CT chest with contrast demonstrates a necrotic right mediastinal mass. Gallium-68 Dotatate PET/CT shows avid radiotracer uptake in the right mediastinal mass compatible with biopsy-proven paraganglioma with no additional radiotracer-avid lesions elsewhere in the body. Hereditary paraganglioma/ pheochromocytoma panel analysis of a blood sample revealed a heterozygous pathogenic frameshift pathogenic variant in SDHC gene. Paragangliomas are extra-adrenal pheochromocytomas and can be isolated or associated with hereditary diseases such as von Hippel-Lindau and succinate dehydrogenase (SDH) mutations. These tumors account for 1% of pediatric secondary hypertension. Functional imaging, including 123I-MIBG, 111In-octreotide SPECT, 68Ga Dotatate and 18F-FDG PET, can be used to confirm the diagnosis, evaluate metastatic spread and conduct disease surveillance. Ga-68 [DOTA-0-Tyr-3] octreotate (DOTATATE), with high affinity for somatostatin receptors (SSTR2) which are expressed by neuroendocrine tumors, is able to localize the tumor by the presence of focal increased radiotracer uptake in areas that are not typical for normal distribution such as pituitary, thyroid, adrenals, liver, spleen, uncinate process of pancreas, kidneys, and bladder. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Salman Rida, Sher Andrew

Keywords: Ga-68 DOTATATE, Paraganglioma

To illustrate the discrepancies between knee MRI reports and arthroscopy findings of posterior horn medial meniscal and meniscocapsular tears (ramp lesions) in children and adolescents. We retrospectively reviewed the available data from 912 patients between January 2018 and October 2022 from multidisciplinary monthly arthroscopic-MR correlation conferences, where we discussed discrepant findings between MRI knee reports and intra-operative arthroscopy findings, with focus on presence, location and type of posterior horn medial meniscal and posterior meniscocapsular tears. Results of secondary reviews of the MRI scans regarding under or over called diagnoses based on an arthroscopic reference standard were also available. By sharing our experience and the lessons we have learned from these multidisciplinary conferences, we highlight the challenges that radiologists might face while diagnosing pediatric meniscal tears on MRI. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Salman Rida, Kan J., Jadhav Siddharth, Schallert Erica, Ditzler Matthew

Keywords: Meniscal tear, ramp, arthroscopy

Norwood procedure is a 3-stage surgical palliation for patients with functionally single ventricle anatomy, most commonly hypoplastic left heart syndrome. Complications after stage I operation are not uncommon and include Blalock Taussig Thomas (BTT) /Sano shunt abnormalities, Damus-Kaye-Stansel (DKS) anastomotic narrowing, and neo-aortic arch /branch vessel stenosis. Transthoracic echocardiography (TTE) is traditionally the mainstay for evaluation. The purpose of our study is to compare Gated Cardiac Computed Tomographic Angiography (CCTA) with TTE when evaluating post-operative complications after stage I Norwood procedure and implications of CCTA findings on management. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Salman Rida, More Snehal, Ferreira Botelho Marcos, Ketwaroo Pamela, Masand Prakash, Jadhav Siddharth

Keywords: Congenital heart disease, CT Angiography, Echocardiography

Anomalous Aortic Origin of Coronary Artery (AAOCA) is the 2nd most common cause of sudden cardiac death in the young. Coronary artery origins are evaluated as part of transthoracic echocardiography (TTE) and diagnostic precision may be limited by technical limitations, operator dependence, and patient cooperation. MRI and gated Cardiac Computed Tomographic Angiography (CCTA) are often utilized in patients where an anomaly is suspected on TTE. There is limited literature comparing TTE and CCTA in children with suspected AAOCA. The purpose of this study is to determine the distribution of various coronary anomalies comparing TTE and CCTA data, and define the added value advanced imaging brings in clinical decision-making. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Salman Rida, More Snehal, Ferreira Botelho Marcos, Ketwaroo Pamela, Masand Prakash, Molossi Silvana, Jadhav Siddharth

Keywords: Anomalous coronaries, CT angiography, Echocardiography