Hedlund Alec,  Stern Sara,  Bohnsack John,  Hedlund Gary

Final Pr. ID: Poster #: EDU-075

To familiarize the pediatric radiologist with the important role that the perforin gene plays in lymphocyte cytotoxicity, to discuss the diversity in clinical presentation, and review the scope of neuroimaging abnormalities that may arise in the setting of a missense perforin genetic defect. The brain MRI findings and relevant clinical information of two remotely related children with the same novel missense mutation in the perforin gene represent the basis of this educational poster.

Perforin is a glycoprotein (encoded by the PRF-1 gene) involved in several human cellular functions, including, immune response and stored mainly in CD8-positive T-cells as well as natural killer (NK) cells. Normally, T-cells and NK cells are responsible for attacking dead cells. In the clinical setting of perforin deficiency, T-cells and NK cells attack the healthy immune system. This arises from a missense mutation of the PRF-1 gene. Links between perforin deficiency and the autoimmune clinical syndrome of hemophagocytic lymphohistiocytosis (HLH), have been reported.

MR imaging abnormalities in patients with perforin gene mutations, are diverse and complex as the defect may occur in the setting of familial hemophagocytic lymphohistiocytosis, primary necrotizing lymphocytic CNS vasculitis or associated with CNS infections such as the Epstein Barr virus.

To date, MRI abnormalities that have been reported include mimics of septic cerebral emboli, confluent white matter abnormalities involving the cerebral hemispheres and cerebellum invoking the consideration of diffuse demyelinating disease, and multifocal infratentorial and supratentorial intraaxial lesions with “necrotic-like” character and marginal enhancement. Multifocal sites of perivascular space pathological enhancement has also been reported. Common to many of these reports is cerebellar involvement.

The imaging differential diagnosis includes atypical infection, histocytic disorders of the CNS, lymphomatous granulomatosis, neurosarcoidosis, and primary CNS lymphoma. Read More

Authors:  Hedlund Alec , Stern Sara , Bohnsack John , Hedlund Gary

Keywords:  Perforin defect, Chronic encephalitis, Necrotizing vasculitis

Priya Sarv,  Nagpal Prashant

Final Pr. ID: Poster #: CR-030

Pediatric polyarteritis nodosa (PAN) is a rare systemic vasculitis affecting medium-sized arteries, leading to inflammation and organ damage. It often involves the skin, kidneys, and gastrointestinal tract, with symptoms such as fever, abdominal pain, and hypertension. Early diagnosis and treatment are essential to managing this condition. This report discusses renal imaging findings in two pediatric patients with PAN.

A 10-year-old male presented with abdominal pain, nausea, and acute renal failure. A left renal biopsy revealed medium vessel arteritis, raising suspicion for polyarteritis nodosa. Renal Doppler ultrasound showed normal renal arteries but increased echogenicity of the kidneys. CTA demonstrated patent renal arteries without beading, but bilateral cortical hypoenhancement was observed, indicating cortical necrosis consistent with vasculitis. MRA further confirmed the suspicion of PAN by revealing minimal contrast blushing and nodularity at the corticomedullary junction, suggestive of microaneurysms. Imaging played a key role in confirming the diagnosis of PAN in this patient.

A 16-year-old male presented with a six-month history of abdominal pain, fatigue, weight loss, chills, and hypertension. Laboratory results showed elevated inflammatory markers. MRA of the chest, abdomen, and pelvis revealed numerous bilateral arterial enhancing foci within the renal parenchyma, measuring 2 to 5 mm, suggestive of microaneurysms. A renal biopsy confirmed secondary focal segmental glomerulosclerosis.

CT and MR imaging are essential for diagnosing pediatric polyarteritis nodosa by identifying key vascular abnormalities such as microaneurysms and ischemic damage. These imaging techniques not only confirm the diagnosis but also guide timely intervention, improving the management of this rare condition in pediatric patients. Read More

Authors:  Priya Sarv , Nagpal Prashant

Keywords:  Renovascular Hypertension, Vasculitis, Abdominal Imaging

Patel Shivani,  Lecrone Natalie,  Mahdi Eman,  Vorona Gregory,  Jones Kathryn,  Mishra Chakradhar,  Taha Khalid

Final Pr. ID: Poster #: CR-021

Crohn’s disease is a common form of granulomatous inflammation affecting the gastrointestinal tract. Takayasu arteritis, a rare large-vessel vasculitis also known as pulseless disease, involves the inflammation, thickening, and narrowing of major arteries such as the aorta and its branches. There is evidence of a higher prevalence of Crohn's disease in patients with Takayasu arteritis, suggesting a potential link between these conditions. This case report highlights the presentation of Takayasu arteritis in a pediatric patient with Crohn’s disease, emphasizing the role of imaging in diagnosis.
An 8-year-old female with a history of Crohn’s colitis was referred to nephrology for hypertensive emergency workup. Her blood pressure was recorded at 158/97 mmHg, prompting an echocardiogram that revealed elevated left ventricular (LV) mass, LV dilatation, eccentric hypertrophy, abnormal diastolic function, and moderate aortic insufficiency—all consistent with hypertensive emergency. A CT angiogram of the chest and abdomen with IV contrast identified infrarenal aortic stenosis, a retroperitoneal soft tissue encasing the stenotic segment, and thickening of the right common carotid artery. These findings were further validated by a Carotid Doppler ultrasound, which showed right common carotid artery wall thickening (0.41cm) with less than 50% stenosis, indicative of vasculitis consistent with Takayasu arteritis. Additionally, MRI revealed diffuse mural thickening, enhancement, and diffusion restriction of the abdominal aorta, with extension to the mesenteric, renal arteries, and left common iliac artery, confirming active arteritis.
Laboratory results showed elevated inflammatory markers, including CRP (2.7), ESR (120), and IgG1 (1658). Normal IgG4 levels ruled out IgG4-related disease. The patient was started on amlodipine and atenolol for hypertension, along with solumedrol for vasculitis. Infliximab, azathioprine, aspirin, and Bactrim were also initiated for Crohn’s and vasculitis management. Read More

Authors:  Patel Shivani , Lecrone Natalie , Mahdi Eman , Vorona Gregory , Jones Kathryn , Mishra Chakradhar , Taha Khalid

Keywords:  Crohn's Disease, Vasculitis, Takayusu

Gagnon Marie-helene,  Richer Edward,  Alazraki Adina

Final Pr. ID: Poster #: CR-030

A 16 year old previously healthymale patient who initially presented with daily recurrent fevers and chills lasting 5-10 minutes. His parents brought him to a tertiary care hospital after developing vomiting and weight loss in the setting of progressively worsening fevers. Initial work up was remarkable for elevated CRP and a negative infectious workup. An MR enterography ordered to evaluate for a cause of weight loss demonstrated incidental lung base lesions. Follow up CTA revealed a lesion within the right ventricle and multiple lung nodules, concerning for endocarditis and septic emboli. He underwent two surgical resections over two months for the ventricular mass. Pathology revealed findings consistent with necrotizing endocarditis. During his hospital course, he was found to have a left cephalic venous thrombosis and was placed on Xarelto, later developing a right subclavian vein thrombus while on anticoagulation. He was readmitted 1 month later after presenting for right chest and right upper quadrant pain. Initial chest X-ray revealed right lower lobe mass and follow up CTA revealed two large right pulmonary artery pseudo-aneurysms. He underwent cardiac catheterization for pre-operative coiling of the pseudo-aneurysms and subsequent right lower lobectomy. Pathology revealed necrotizing arteritis and pulmonary artery pseudo-aneurysms. Based on clinical presentation and further work up, he was diagnosed with Hughes Stovin Syndrome and started on Cytoxan and Apixaban. While not yet considered in remission, his symptoms have improved since initiating treatment.

Hughes Stovin Syndrome (HSS) is a rare disorder characterized by thrombophlebitis as well as multiple pulmonary and/or bronchial aneurysms. There is a male predilection, usually presenting between 12-48 years. There have been less than 40 cases published in the English literature. HSS is thought to be a variant of Bechet’s but does not present with oral or genital ulcers. The lack oral and genital ulcers in this patient excluded a diagnosis of Bechet’s. The underlying cause of HSS is unclear but is believed to be due to angiodysplasia or infection. Since there is no formally described diagnostic criteria, the clinical presentation of thrombophlebitis with pulmonary artery aneurysms characterize the disease.

We present this case to illustrate the clinical presentation of a rare and possibly under recognized syndrome. Read More

Authors:  Gagnon Marie-helene , Richer Edward , Alazraki Adina

Keywords:  Vasculitis, Aneurysm, Thrombophlebitis

Herrera Ernesto,  Rodríguez Garza Claudia,  Mendoza Venegas Diego

Final Pr. ID: Poster #: CR-045

Juvenile-onset systemic lupus erythematosus is a form of systemic lupus erythematosus, an autoimmune disease that occurs in approximately 10–20% of cases before the age of 16. When the central nervous system is involved, the condition is termed neuropsychiatric lupus. These symptoms typically develop within the first year after diagnosis and are linked to a higher risk of mortality.
A 15-year-old male patient with a medical history of systemic lupus erythematosus, antiphospholipid syndrome, and lupus nephritis presented to the emergency department with decreased visual acuity and paralysis of the left sixth cranial nerve. Additionally, elevated blood pressure levels were recorded during his admission.
Given the symptoms, a brain MRI without contrast was performed. Punctate and linear focal areas in the right hemipontine and bulbopontine junction, which were hyperintense on T2/FLAIR and hypointense on T1, with no diffusion restriction or post-gadolinium enhancement, suggestive of malacia. Additionally, irregularities in the caliber of the left vertebral, basilar, and right posterior cerebral arteries were observed, characterized by alternating dilated and stenotic areas resembling a pearl necklace, along with wall irregularities indicative of vasculitis. Treatment was initiated, however the response was inadequate. During hospitalization, the patient experienced a sudden neurological deterioration. A non-contrast head CT and CT angiography were performed, revealing Fisher IV subarachnoid hemorrhage and persistent findings in the posterior cerebral arterial circulation. Later, he developed right hemiparesis, a second brain MRI, which identified a cerebral vascular event in the left middle cerebral artery's partial territory in a subacute stage. Additionally, there was a reduction in caliber and intensity of both middle cerebral arteries, suggestive of vasospasm, while the posterior cerebral circulation showed no changes compared to previous studies. Finally, cerebral angiography was conducted, confirming the previously described findings.
Vasculitis is a characteristic feature of juvenile-onset systemic lupus erythematosus, the incidence of CNS vasculitis in systemic lupus erythematosus is around 7–10%. MRI is the preferred modality for characterization; however, diagnosis is challenging for radiologists due to the diverse clinical manifestations, which present a broad spectrum of severity and nonspecific imaging findings. Read More

Authors:  Herrera Ernesto , Rodríguez Garza Claudia , Mendoza Venegas Diego

Keywords:  Vasculitis, Neurologic