Gorham-Stout disease is an osteolytic bone disorder associated with abnormal lymphangiogenesis. The disease commonly involves the ribs, cranium, clavicles, and cervical spine; however, it may be seen anywhere throughout the skeleton. The disease has variable inheritance, has no known markers, does not exhibit a predilection for sex or race, and may present at any age, although it is usually diagnosed in adolescence. Gorham-Stout remains an exceedingly rare disease with only 300 reported cases in the literature. Our patient is a 15-month-old, previously healthy child that presented with fevers and a seizure. CT head without contrast showed uncomplicated otitis media, and patient was appropriately treated and discharged. 4 months later, a follow up MRI brain with and without contrast was obtained for continued lethargy, poor oral intake, and right-sided slowing on EEG. Results showed fluid-filled polyostotic lesions within the right petrous bone and clivus with dehiscence along the posterior petrous bone. Given the polyostotic lesions without intervening inflammatory reaction, the diagnosis of Gorham-Stout was suspected. A subsequent bone survey did not reveal additional lesions. Follow up MRI imaging showed interval development of right cervical neck cystic spaces from petrous bone CSF leak, bilateral subdural effusions, and elevated intracranial pressures requiring ventriculoperitoneal shunt placement. On CT myelogram, a right pars nervosa meningocele was found, thought to be secondary to the above process. Gorham-Stout remains an elusive disease that is difficult to diagnose as it has no known genetic precursors or associations. It exhibits variable phenotypic presentation, as in this case where it was seen in a 15-month-old child rather than at adolescence, with severe neurologic sequela from skull base lesions. The superimposed otitis media created an interesting diagnostic dilemma as the middle ear fluid was originally thought to represent an uncomplicated acute infection; it is unclear if the underlying disease process predisposed the patient to infection given the static fluid accumulation. Although typically a diagnosis of exclusion, Gorham-Stout should remain in the differential as timely identification of the disease will allow for more targeted management that can minimize osseous demineralization and potential sequela of disease. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

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

Keywords: Other, Skull Base Lesion

A 16-year-old boy was transferred to our institution after experiencing a week of worsening numbness and weakness in his left lower extremity. Initially diagnosed with sciatica at an outside facility, he was treated with steroids. However, as his symptoms progressed, including difficulties with bowel movements, he returned for further evaluation. Outside MRI studies of the lumbar spine and brain revealed hyperintensities and enhancement at T11-T12, raising concerns for transverse myelitis. Subsequent MRI of the cervical and thoracic spine and brain demonstrated extensive T2-weighted cord edema extending from C7 to the conus medullaris, along with a long segment of intramedullary hemorrhage, most pronounced from T8-T9. The differential diagnosis based on these findings included long-segment transverse myelitis complicated by cord hemorrhage or an intramedullary neoplasm, such as ependymoma or astrocytoma. Comprehensive laboratory testing, including serologic and cerebrospinal fluid studies, ruled out infectious, autoimmune, metabolic, and demyelinating causes. Given the presence of intramedullary hemorrhage, a vascular etiology, such as an arteriovenous shunt, was considered; however, a diagnostic spinal angiogram showed no evidence of an aneurysm or vascular malformation. Multi-specialty conferences involving radiology, infectious diseases, rheumatology, neuroimmunology, and neurosurgery were conducted, but no consensus was reached regarding the underlying etiology of the lesions. Ultimately, the patient was treated empirically for transverse myelitis with steroids, intravenous immunoglobulin (IVIG), and plasmapheresis. Hemorrhagic transverse myelitis can result from a variety of etiologies, including infectious, neoplastic, demyelinating, vascular, autoimmune, and idiopathic factors. Key MRI sequences for evaluation include T2-weighted and post-contrast images, which are essential for assessing spinal cord edema, inflammation, and hemorrhagic changes. Additionally, gradient echo (GRE) sequences are vital for detecting subtle blood products, as blood degradation products display greater hypointensity and blooming on GRE images compared to T2-weighted images. By understanding this rare condition and its potential underlying causes, radiologists can play a crucial role in guiding clinical teams toward accurate diagnosis and timely management of patients with hemorrhagic transverse myelitis. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

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

Keywords: Spinal Cord, MRI, Emergency/Acute

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