Reversible cerebral vasoconstriction syndrome (RCVS) is commonly seen in middle-aged patients. This syndrome is characterized by thunderclap headaches which may not be apparent or recognized in pediatric patients, posing a challenge in diagnosis. Several medications have been associated with the development of RCVS, though they are not reliably known to cause it: highlighting the potential influence of other underlying predisposing factors. RCVS is self-limiting with treatment focused on reducing the degree of vasoconstriction. A 7-year-old male patient with a medical history of B-cell acute lymphoblastic lymphoma, currently undergoing treatment with intrathecal methotrexate, cytarabine, and IV vincristine was admitted to our institution for acute perforated appendicitis. On the second day of hospitalization, the patient developed left arm weakness which prompted evaluation with MRI/MRA brain. Imaging revealed restricted diffusion in the left superior frontal gyrus with corresponding low ADC values and mild T2/FLAIR signal suggestive of an acute ischemic infarct. Vascular imaging showed a beaded appearance of the supraclinoid ICA, ACA and MCA bilaterally. Transcranial doppler study of the arteries confirmed elevated velocities consistent with multifocal stenoses. Initial differential diagnoses included acute ischemic infarct secondary to vasculitis with infectious causes considered due to the patient’s neutropenic state. Although, there was no evidence of vasculitis in other regions of the body and a primary CNS vasculitis typically presents with bilateral infarcts. Methotrexate leukoencephalopathy was also considered, although it typically affects white matter, primarily in the centrum semiovale. Posterior reversible encephalopathy syndrome was another possibility, but the absence of cerebral microhemorrhages argued against this. Given the vascular and ischemic findings, RCVS was ultimately suspected. A follow-up MRI performed several days later revealed a new infarct in the right frontal lobe. Notably, repeat CTA imaging showed complete resolution of the arterial stenoses, further supporting the diagnosis of RCVS. This case illustrates the diagnostic challenge of RCVS in a pediatric patient with comorbidities that initially pointed towards a neoplastic or infectious etiology. Although not performed in the presented case, vessel wall MRI may be a useful tool in differentiating between arterial narrowing from vasculitis versus RCVS or atherosclerosis. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Shukla Neal, Kim Joseph, Hammer Matthew, Tu Long, Rao Balaji

Keywords: RCVS, Acute Lymphoblastic Leukemia, Neuroradiology

Pleuropulmonary blastoma represents a rare, primary pulmonary malignancy with an incidence of 25-50 cases a year within the United States (Knight 2019). In children under 6 years of age, it is the most common primary pulmonary malignancy, comprising approximately 25% of cases (Dehner 2019). It is an autosomal-dominant condition associated with the DICER1-related tumor susceptibility syndrome. This syndrome includes other neoplastic etiologies such as Sertoli-Leydig tumors of the ovary and cystic nephroma. It is usually diagnosed in childhood, as early as months after birth, and can be subdivided into three types based on tumor composition: cystic, mixed cystic and solid, and solid. The disease is believed to start as a cystic lesion that progressively becomes more solid over time, with morbidity/mortality outcomes directly tied to time of diagnosis. Our patient was a 2-month-old female, with a known family history of DICER1 mutation in the mother, who presented to the hospital for projectile vomiting. Abdominal ultrasound revealed ileocolic intussusception, which was confirmed to be secondary to an ileal hamartoma on surgical small bowel resection. Subsequent genetic testing confirmed the presence of DICER1 mutation. Follow up CT chest at 6-months-old showed a right lower lobe multi-septate 2.1 x 2.0 cm cystic lesion as well as an adjacent sub-centimeter cystic lesion suspicious for type 1 pleuropulmonary blastoma versus congenital pulmonary airway malformation (CPAM). A multi-disciplinary conference opted for right lower lobectomy given the risk of the lesion. Pathology confirmed type 1 pleuropulmonary blastoma. Subsequent retroperitoneal and pelvic ultrasounds were negative for renal or ovarian abnormality. Pleuropulmonary blastoma is an exceedingly rare diagnosis that is easily overlooked or misdiagnosed as benign etiology such as CPAM. It is important to note that any pulmonary cystic lesion in a pediatric patient warrants interval follow-up for continued assessment of the lesion. If a pulmonary cystic lesion is identified, subsequent renal and pelvic imaging should be obtained to rule out other lesions that may co-exist as part of a genetic syndrome such as DICER1. Timely diagnosis is critical as it directly influences patient mortality/morbidity. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Hammer Matthew, Kim Joseph, Shukla Neal, Tu Long, Rao Balaji

Keywords: Pleuropulmonary Blastoma, Thoracic

Septo-optic dysplasia is a rare condition with an estimated prevalence of 1 in 10,000-50,000 live births. Characteristic features include optic nerve hypoplasia, septum pellucidum absence, and hypothalamic-pituitary dysfunction; at least two features are needed to make the diagnosis. The disease has phenotypic variation, with only 30% of patients exhibiting the full triad of findings. In newborns, the disease can be suspected in the setting of hypoglycemia, jaundice, microphallus, and ocular abnormality. We present multiple cases of septo-optic dysplasia. Case 1: A newborn term female was found to have hyperbilirubinemia and hypoglycemia shortly after birth. Subsequent MRI brain without contrast showed right temporal open lip schizencephaly, a large right middle cranial fossa arachnoid cyst, and dysplasia of the bilateral optic nerves. Upon follow-up, the patient reached her growth milestones but had vision deficits. Case 2: A 12-year-old boy presented with concern for delayed growth. Per his parents, he had a remote history of septo-optic dysplasia, but outside imaging was not available for review. Subsequent MRI brain and orbits with and without contrast showed open-lip right frontal schizencephaly, bilateral hypoplastic optic nerves, a hypoplastic pituitary gland with an ectopic posterior pituitary, and a left middle cranial fossa arachnoid cyst. X-ray of the hand and wrist showed a 5-year delayed skeletal age. Lab values were consistent with panhypopituitarism, and the patient was started on growth hormone. Follow up imaging when the patient was 18 years old showed congruent skeletal and chronological age. Case 3: A 14-year-old boy who had been wearing glasses since he was 4 years old presented for worsening vision. On fundoscopic exam, bilateral optic nerve hypoplasia was noted. Follow-up MRI brain with contrast showed an absent septum pellucidum and bilateral optic nerve hypoplasia without brain parenchymal abnormality. The patient was referred to endocrinology for further workup. Overall, septo-optic dysplasia remains a rare condition with variable phenotypic expression and morbidity for patients. Since the disease is part of a larger spectrum, it should remain on the differential for young patients with pituitary dysfunction and/or vision abnormalities. Timely diagnosis allows for faster treatment and appropriate management of hypopituitarism and brain parenchymal abnormalities. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Hammer Matthew, Kim Joseph, Shukla Neal, Tu Long, Rao Balaji

Keywords: Septo-Optic Dysplasia, Neuroradiology

History: A 14-year-old female was brought to the emergency department following a self-harm incident. During her assessment, she was found to have elevated blood pressures and a prolonged QTc interval. She reported frequent episodes of palpitations and dizziness over the past year, often occurring immediately after urination. Findings: Initial ultrasound showed unremarkable kidneys and normal hemodynamics in the renal vessels. However, a heterogeneously echogenic mass with increased vascularity on color Doppler was visualized in the left bladder wall. MRI confirmed that the mass originated from the bladder base and extended through the left bladder wall, showing avid contrast enhancement and restricted diffusion. Gallium-68 Dotatate PET/CT demonstrated intense radiotracer uptake in the bladder mass, left pelvic sidewall, and left internal iliac lymph nodes. The patient underwent chemotherapy and partial cystectomy. Pathology revealed neuroendocrine and nested features with infiltration into the smooth muscle bundles consistent with the muscularis propria of the bladder. Tumor cells tested positive for chromogranin and synaptophysin immunostains, while pan-cytokeratin (AE1/AE3) was negative. Genetic testing identified the R242H variant in the SDHB gene. Discussion: Bladder paragangliomas are rare neuroendocrine tumors arising from the sympathetic paraganglia present in the bladder wall. They represent 6% of extra-adrenal paragangliomas and 0.05% of all bladder tumors. Typical symptoms include hypertension, hematuria, and catecholamine-associated symptoms like headaches and palpitations during micturition. Up to 63% of bladder paraganglioma patients have a germline mutation, most commonly in the SDHB subunit gene, increasing their risk of developing pheochromocytomas and additional paragangliomas. Therefore, lifelong biochemical and imaging screening from skull base to pelvis are recommended. Conclusion: Bladder paragangliomas are a rare variant of extra-adrenal pheochromocytomas. MRI plays an important role in the pretreatment diagnosis of bladder paraganglioma. Gallium-68 Dotatate PET/CT is highly specific and can help diagnose metastatic spread. Lifelong follow-up is recommended due to the risk of recurrence and metastasis, and the potential for developing additional paragangliomas or pheochromocytomas. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Kim Joseph, Shukla Neal, Hammer Matthew, Lozano Richard, Hajibeygi Ramtin, Tu Long, Rao Balaji

Keywords: Bladder, PET/CT, Nuclear Medicine