Erdheim-Chester disease (ECD) is a rare multisystem histiocytic neoplasm. Breast manifestations of this condition are exceedingly rare with fewer than 20 cases reported in the literature. We present a case report of a 40-year-old female patient with a 5-year history of breast enlargement and pigmentation who was diagnosed with ECD involving the bones, retroperitoneum and breast, highlighting key imaging and pathologic features that led to the diagnosis. ECD should be considered in the differential diagnosis of infiltrative breast disease. Considering this differential diagnosis allows appropriate further assessment and management.
Background:Brainstem disconnection syndrome (BDS) is an exceedingly rare congenital malformation of the hindbrain characterized by disconnection of the brainstem, often presenting with severe neurological deficits and early neonatal mortality. Whereas previous cases have documented isolated neurological anomalies, this report delineates a distinctive presentation of BDS associated with a specific constellation of multisystem vascular and extracerebral skeletal malformations. Case Presentation:A 4-month-old female infant, born from a discordant twin pregnancy, exhibited persistent neonatal respiratory failure, failure to wean from oxygen therapy, global tonic-clonic seizures, and severe hypotonia. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the brain demonstrated a complete absence of the pons, a slender tissue cord connecting the midbrain and medulla oblongata, extensive cerebellar hypoplasia, and nonopacification or aplasia of the basilar and distal vertebral arteries. Whole exome sequencing did not reveal any standard inherited neurodevelopmental mutations; however, genomic analysis identified carrier status for a biologically plausible frameshift variant in TMEM67, a gene heavily implicated in ciliary hindbrain morphogenesis. The implementation of targeted supportive care allowed the patient to survive beyond the typical early neonatal period, with the patient remaining alive at a 12-month follow-up. Conclusion:This case broadens the known phenotypic and radiological range of BDS by reporting new multilevel skeletal and vascular co-occurring conditions. The notable phenotypic differences seen in this twin pregnancy support the theory of early embryonic vascular disruption. Additionally, the detection of the TMEM67 variant indicates that ciliary gene mutations could be important genetic factors or modifiers in BDS.
Methanol toxicity remains a critical yet challenging diagnosis due to its nonspecific early presentation and potential for delayed intervention. Although methanol itself is nontoxic, its metabolite-formic acid-induces severe metabolic acidosis and neurotoxicity, particularly affecting the basal ganglia and optic nerves. We present a case of a male in his 50s with altered mental status and visual impairment following windshield washer fluid ingestion. Initial computed tomography (CT) was unremarkable, but follow-up imaging revealed bilateral putaminal necrosis and subcortical white matter involvement, including the frontal and occipital lobes. Diffusion-weighted imaging (DWI) findings demonstrated acute ischemia and necrosis, underscoring the value of advanced imaging when methanol toxicity is suspected. This case highlights the importance of recognizing characteristic radiological patterns to facilitate timely diagnosis and improve patient outcomes.
A 34-year-old woman with a history of Turner syndrome presented to the emergency department after a high-speed motor vehicle collision. Computed tomography (CT) of the thoracic spine demonstrated an unstable inferior endplate fracture of T7 with bilateral laminar fractures. Computed tomography angiography (CTA) of the chest and magnetic resonance angiography (MRA) of the aorta demonstrated a 6-mm focal outpouching of contrast along the right aspect of the descending thoracic aorta, concerning for an unruptured bronchial artery pseudoartery aneurysm. Digital subtraction angiography (DSA) confirmed a pseudoaneurysm arising from the origin of the right bronchial artery, which was successfully treated with coil embolization.
Background:A 6-year-old child with a clinical history of chylopericardium treated with pericardiocentesis presented with retrosternal chest pain and asthenia in the past 2-3 days. The patient underwent a chest-abdominal MRI revealing pericardial and pleural effusion with lymphatic malformation of the thoracic duct and lymphatic abdominal vessels. Materials and Methods:The patient underwent a thoracic duct embolization, consisting of two stages. At the first stage, a US-guided catheterization of a hepatic lymphatic duct and of two inguinal lymph nodes bilaterally was carried out to perform a dynamic contrast-enhanced MR intranodal lymphangiography (DCMRL). DCMRL showed lymphangiectasia of retroperitoneal lymphatics and of the thoracic duct with double drainage into the left subclavian vein and a possible lymphatic leak near the pulmonary veins. At a second stage, a thoracic duct catheterization and lymphography were performed, confirming the lymphatic leakage into the pericardial cavity and allowing the embolization of the thoracic duct extending to L1 vertebral level through pushable and detachable coils followed by injection of cyanoacrylate diluted 1:1 with lipiodol. Conclusion:This case was emblematic as it underlined the importance of DCMRL as a preprocedural diagnostic tool for studying lymphatic variants and malformations of patients needing any lymphatic treatment. It also added evidence on the effectiveness of this interventional approach for treating chylous effusions and interstitial lung disease.
Metastatic tumors of the nasal cavity and paranasal sinuses are rare, and the prostate is a particularly uncommon primary site. Including metastatic prostate cancer in the differential diagnosis of sinonasal tumors can be clinically challenging. To our knowledge, there are no detailed case reports confirming uptake in paranasal sinus metastases from prostate cancer using 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT). The patient was a 68-year-old man who was diagnosed with prostate cancer 16 years prior to his visit. After a 10-year remission, he received radiation therapy and radium-223 for prostate cancer 6 years earlier, followed by multiple courses of radiation therapy for lymph node and bone metastases over the next 5 years. His chief complaints were a 2-month history of nasal congestion and a postnasal drip. The tumor was located mainly in the right paranasal sinus and showed signs of bone infiltration and tumor necrosis. FDG-PET/CT showed intense uptake in the mass (maximum standardized uptake value = 15.2). The differential diagnosis included primary and metastatic tumors. Biopsy revealed histological features similar to the primary prostate cancer site from 16 years prior, with prostatic acid phosphatase and NKX3.1 positive staining. The patient was diagnosed with metastatic prostate cancer, underwent palliative radiotherapy, and passed away approximately 23 months after the detection of paranasal sinus metastasis. This case highlights the importance of considering metastasis even in atypical lesions in patients with prostate cancer.
Primary tracheobronchial tumors are rare and are frequently diagnosed late because their presenting symptoms are nonspecific and may mimic more common respiratory conditions. We report a case of a 74-year-old man with a significant smoking history who presented with progressive dyspnea, cough, hemoptysis, and stridor, initially treated with multiple courses of antibiotics and corticosteroids, without improvement. Chest radiography was reportedly normal, but a contrast-enhanced CT demonstrated an endoluminal soft tissue mass centered at the distal trachea/carina with extension into the bilateral mainstem bronchi, causing near-complete obstruction of the left mainstem bronchus and moderate-to-severe narrowing of the right mainstem bronchus. Coronal FDG PET/CT demonstrated intense metabolic activity centered at the carina. Predebulking bronchoscopy confirmed a verrucous fungating carinal mass causing severe central airway compromise, whereas postdebulking bronchoscopy showed marked restoration of airway patency. Histopathologic evaluation established squamous cell carcinoma. This case highlights the diagnostic limitations of chest radiography and the essential role of CT, FDG PET/CT, and bronchoscopy in evaluating malignant central airway obstruction.
Background:Brain metastases from hepatocellular carcinoma (HCC) are rare, with a reported incidence of approximately 0.2%-2.2% of cases. Although uncommon, they may present with acute focal neurological deficits that closely mimic acute cerebrovascular events, posing significant diagnostic challenges in emergency settings where stroke pathways are routinely prioritised. Failure to recognise an underlying structural lesion in this context may lead to inappropriate management and delayed definitive treatment. Case Presentation:A 66-year-old man with chronic hepatitis B infection and biopsy-confirmed HCC (Barcelona Clinic Liver Cancer Stage B; serum alpha-fetoprotein 1000 ng/mL) presented with sudden-onset right-sided weakness, expressive aphasia and facial deviation approximately 4 weeks after initial HCC diagnosis. Noncontrast computed tomography (CT) of the brain demonstrated a hypodense intra-axial lesion in the left frontal lobe with surrounding vasogenic oedema. Because the atypical CT appearance and subsequent heterogeneous contrast enhancement raised suspicion for a neoplastic aetiology, magnetic resonance imaging (MRI) was performed; this revealed a solitary left frontal mass with avid enhancement and facilitated diffusion on diffusion-weighted imaging, which definitively ruled out acute ischaemic stroke. Gradient echo sequences also demonstrated blooming artefact consistent with intralesional haemorrhage. In the context of known HCC, the imaging findings were consistent with a solitary haemorrhagic brain metastasis presenting as a stroke mimic. The patient was discussed at a multidisciplinary tumour board and subsequently transitioned to palliative care owing to advanced systemic disease and poor functional status. Conclusion:Solitary brain metastasis from HCC should be considered in the differential diagnosis of patients presenting with acute focal neurological deficits, particularly when initial CT findings are atypical for ischaemic infarction or when a known primary malignancy is present. Early contrast-enhanced MRI, including diffusion-weighted sequences, is essential for accurate differentiation of stroke mimics and for guiding timely, appropriate clinical management.
Inferior mesenteric artery arteriovenous fistulae are rare, acquired connections between arterial and venous systems associated with a range of symptoms, from abdominal pain to life-threatening lower gastrointestinal hemorrhage. We report an iatrogenic inferior mesenteric artery arteriovenous fistula in a 30-year-old female, presenting with massive hematochezia 1 month after a left hemicolectomy. Angiography demonstrated a high-flow vascular connection between the inferior mesenteric artery and rectal veins, which was treated with n-butyl-2-cyanoacrylate mixed with ethiodized oil for arteriovenous connection occlusion followed by coil embolization of the feeding arteries. Follow-up imaging at 8 months showed no recanalization of the fistula, and she remains asymptomatic 4 years later. Iatrogenic inferior mesenteric artery arteriovenous fistulae, though rare, should be considered after colorectal surgery as a possible cause of recurrent lower gastrointestinal hemorrhage, even within weeks of the operation; dilated mesenteric varices and premature venous filling on the arterial phase are key CT findings. Endovascular management targeting the arteriovenous communication and feeding arteries can achieve durable occlusion in these high-flow fistulae.
Primary malignant pericardial mesothelioma is an exceptionally rare and aggressive malignancy that frequently presents with nonspecific cardiopulmonary symptoms, recurrent pericardial effusion, constrictive physiology, or cardiac tamponade. Early diagnosis is challenging because an infiltrative pericardial tumor may remain occult on initial imaging studies performed for acute cardiopulmonary evaluation. A 67-year-old woman presented with chest discomfort and shortness of breath. CT pulmonary angiography and thoracic aortic computed tomography angiography (CTA) were performed to evaluate for pulmonary embolism and acute aortic pathology. The examinations were negative for pulmonary embolism and acute aortic abnormality; however, they revealed a large mildly hyperattenuating circumferential pericardial effusion measuring approximately 35 HU, concerning for complex mixed hemorrhagic and serous fluid with tamponade physiology. No discrete enhancing pericardial mass was confidently identified on the initial CTA examination. Transthoracic echocardiography confirmed a large pericardial effusion with tamponade physiology. Pericardiocentesis removed approximately 600 cc of fluid, with cytologic analysis nondiagnostic for malignant cells. The patient returned approximately 2 weeks later with progressive dyspnea. Cardiac MRI demonstrated an extensive heterogeneously enhancing infiltrative anterior pericardial mass extending toward the great vessels and left atrial region. FDG PET/CT showed an intensely FDG-avid infiltrative pericardial mass without distant metastatic disease or FDG-avid lymphadenopathy. Thoracoscopy and pericardial biopsy confirmed epithelioid mesothelioma. Immunohistochemistry revealed positivity for CK7, calretinin, CK5/6, and WT1 and negativity for claudin-4 and TTF-1. The patient was treated with carboplatin and pemetrexed, with planned radiation therapy. This case highlights that primary malignant pericardial mesothelioma may initially present as complex hemorrhagic pericardial effusion with tamponade physiology, with infiltrative tumor occult on nondedicated acute CTA examinations. Persistent or recurrent symptoms following drainage should prompt further evaluation with cardiac MRI and PET/CT for tissue characterization, staging, and biopsy planning.
Retroperitoneal fibrosis (RPF) is a rare fibroinflammatory condition producing inflammatory masses in the retroperitoneum that can obstruct retroperitoneal structures, including vessels and ureters. RPF typically presents in middle-aged men and may be associated with IgG-4-related disease (IgG-4 RD). This report describes a 34-year-old woman who presented 6 months postpartum with left leg swelling and lower abdominal pain. Contrast-enhanced CT revealed a homogenous retroperitoneal soft-tissue mass encasing the aorta and iliac arteries, with inferior vena cava (IVC) obstruction and collateral venous return through extensive pelvic varices. MRI findings included hypointensity on T2-weighted imaging and restricted diffusion. Management with thrombolytics and steroids resulted in recanalization of the IVC, though persistent hydronephrosis required nephrostomy and further urological intervention. The presentation of RPF in a young woman is unusual, and we theorize that immune system reactivation following the relative immunosuppression during pregnancy may have precipitated the condition. The case illustrates one of several immunologic factors associated with RPF.
Cyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder defined by recurrent, stereotyped episodes of severe nausea and vomiting separated by symptom-free intervals, and it is frequently accompanied by autonomic dysregulation and, in some patients, hypertension. Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic syndrome commonly linked to acute hypertension and characterized by vasogenic edema on neuroimaging. We describe a 16-year-old female with a long-standing, criteria-based diagnosis of CVS and chronic, recurrent hypertension who developed MRI-confirmed PRES during a period of sustained postoperative hypertension. She had a prior MRI-confirmed episode of PRES in 2012, with documented radiologic reversibility on follow-up imaging. Neuroimaging during the index admission demonstrated vasogenic edema in the parieto-occipital lobes and cerebellar vermis. Secondary causes of hypertension, including pheochromocytoma, primary aldosteronism, thyroid disease, renal and renovascular disease, and Cushing syndrome, were systematically excluded, and the episode was considered most likely related to her hypertension. We discuss CVS-related autonomic dysregulation as a possible contributor, while recognizing hypertension as the immediate driver of PRES in this case. Prompt antihypertensive therapy and seizure prophylaxis were followed by clinical and radiologic improvement. This case highlights the value of recognizing recurrent hypertensive PRES in adolescents with CVS and of carefully excluding alternative etiologies.
Purpose:This report aims to raise clinical awareness of a rare case of Maffucci syndrome in a 34-year-old female presenting with diffuse intraductal breast papillomatosis. It further explores a possible hypothesis-generating pathogenic association between Maffucci syndrome and a specific subtype of papillary breast neoplasia in the context of shared molecular pathways involved in disease pathogenesis. Introduction:Maffucci syndrome is a rare, congenital, nonhereditary disorder characterized by enchondromas, hemangiomas, and skeletal deformities, typically presenting in early childhood. Since its initial description in 1881, fewer than 300 cases have been reported, with an estimated prevalence of < 1 in 27 million. Somatic mutations in IDH1 and IDH2 are key drivers of Maffucci syndrome and are also implicated in malignancies such as gliomas, chondrosarcomas, intrahepatic cholangiocarcinoma, and acute myeloid leukemia. Most relevant to this case, tall cell carcinoma with reversed polarity (TCCRP)-a rare subtype of papillary breast carcinoma-is characteristically associated with hotspot IDH2 R172 mutations, a molecular feature otherwise uncommon in both breast carcinomas and Maffucci syndrome. Only one documented case of an IDH1-mutated solid papillary carcinoma with reversed polarity (SPCRP) exists in the current literature. Case Description:The patient is a 34-year-old female with Maffucci syndrome, diagnosed in childhood via clinical and radiographic evaluation, with a history of skeletal and vascular complications, including primary chondrosarcomas of the left scapula, right distal patella, and right proximal tibia. She initially presented in 2016 with left-sided hemorrhagic nipple discharge, prompting serial imaging and biopsies that identified recurrent intraductal papillary lesions, consistently benign on core needle biopsy and surgical excision. A right-sided lesion was excised in 2022, followed by two left-sided lesions resected in 2023 and 2024. Mammography in November 2024 revealed three nodular lesions in the left lateral breast, characterized as complex cystic masses, with core needle biopsy confirming benign intraductal papillomas without atypia. Although subsequent imaging demonstrated stability of these lesions on follow-up ultrasound in June 2025, the longitudinal course illustrates a recurrent pattern of intraductal papillary lesion development over time. Conclusions and Importance:This case raises the possibility of an association between Maffucci syndrome and recurrent papillary breast lesions. In the absence of molecular confirmation, this relationship remains speculative and should be regarded as hypothesis generating, underscoring the need for further investigation with genetic and immunohistochemical correlation rather than changes to established breast cancer screening guidelines.
Hypoglycemic encephalopathy can result in reversible, and sometimes irreversible, lesions within the brain that need prompt recognition and treatment. The disease is relatively uncommon, but radiologists must keep in mind the rare radiologic findings of this disease. Although the most common cause is insulin, insulinoma is a rare etiology, and hypoglycemia is often misdiagnosed as epilepsy. A 66-year-old man presented with recurrent involuntary movements and impaired consciousness with neuropsychiatric symptoms without a history of antidiabetic therapy. Initial blood glucose was critically low at 29 mg/dL. Diffusion-weighted imaging (DWI) revealed reversible high signals in the white matter, involving the bilateral posterior limbs of the internal capsule, corona radiata, cerebral peduncle, and splenium of the corpus callosum. A fasting test and contrast-enhanced computed tomography confirmed the diagnosis of insulinoma. Intravenous glucose was administered immediately, resulting in rapid clinical improvement. Laparoscopic distal pancreatectomy was subsequently performed. Clinical symptoms resolved completely within 1 day of glucose administration. Follow-up DWI performed 2 months after onset demonstrated complete resolution of all white matter hyperintensities without recurrence. The patient reported feeling well without recurrence of the symptoms. We report a case of hypoglycemic encephalopathy caused by insulinoma with reversible high signals in the white matter on DWI, presenting with neuropsychiatric symptoms mimicking epilepsy. We also discuss findings of magnetic resonance imaging in hypoglycemic encephalopathy with emphasis on the time course of the findings.
Pseudoaneurysm is an abnormal outpouching from the arterial wall containing only the outermost adventitial layer. As compared with this, true aneurysms contain all three layers: intima, media, and adventitia. Pseudoaneurysms are formed when blood traverses through the intima and media but is held by an adventitial layer. There are several etiologies for the formation of pseudoaneurysms, the most common one being posttraumatic laceration or dissection of the vessel wall. Postprocedural iatrogenic injury during surgery or biopsy is also another common cause for the development of pseudoaneurysms. Vasculitis, regional inflammatory conditions (like pancreatitis causing splenic pseudoaneurysm), and penetrating atheromatous ulcer are among the less common causes. Here, we present a case of a chronic posterior tibial artery pseudoaneurysm following a remote gunshot injury that resulted in extensive transcortical erosion with intraosseous extension and tibial bone transcortical erosion on a 33-year-old male patient with no known prior medical illness. Multimodal imaging including Doppler ultrasound, MRI (with contrast), and CT angiography established the diagnosis after an initial fine-needle aspiration (FNA) attempt led to significant hemorrhage. Only a few cases have been reported on pseudoaneurysms of this size and tibia bone erosion. To our knowledge, full tibial transcortical erosion caused by a chronic posterior tibial artery pseudoaneurysm has not been clearly documented in the literature. This case highlights the importance of early vascular imaging prior to biopsy of pulsatile or indeterminate soft tissue masses.
Bilateral vertebral artery disease presents a critical risk for posterior circulation stroke due to impaired collateral flow. This report details an adult presenting with acute neck pain and visual disturbances. Computed tomography (CT) angiography revealed left vertebral artery dissection at the C2 level with a 0.5 cm dissecting pseudoaneurysm and complete occlusion of the right vertebral artery. Magnetic resonance imaging (MRI) demonstrated no acute infarction. Symptoms improved with conservative management, including antiplatelet therapy. The case highlights the importance of recognizing high-risk bilateral vertebral artery pathology, understanding its imaging features, and considering substance abuse as a risk factor for arterial dissection. This case is notable for V3 dissecting pseudoaneurysm in the only functional vertebral artery in the setting of chronic contralateral occlusion and recent methamphetamine use, successfully managed conservatively.
Bartholin duct cysts are common benign vulvar lesions, but unusually large cysts in postmenopausal women are rare and may raise concern for malignancy. We report a 56-year-old postmenopausal woman with a progressively enlarging right-sided vulvar mass that was initially misdiagnosed at multiple healthcare levels as a urinary tract infection and a labial abscess. Clinical examination revealed a large, nontender vestibular mass arising from the right Bartholin gland region. Transperineal ultrasound demonstrated a cystic lesion with heterogeneous internal echoes and no internal vascularity. Noncontrast MRI demonstrated a well-circumscribed purely cystic lesion measuring 5.9×5.4×4.0 cm with no enlarged regional lymph nodes or invasion of adjacent structures. Surgical marsupialization was performed, and histopathological analysis confirmed a benign Bartholin duct cyst. The patient had an uneventful postoperative course and no recurrence on follow-up. This case highlights that atypically large Bartholin duct cysts should be considered in the differential diagnosis of vulvar masses in postmenopausal women. Ultrasound and MRI can help characterize lesion morphology and extent, but histopathological confirmation remains essential in atypical presentations to exclude malignancy.
Neurofibroma is a benign tumor arising from neural crest-derived cells and is characterized by a nonencapsulated growth pattern that incorporates surrounding nerve fibers. Laryngeal involvement is rare, and arytenoid cartilage localization is exceptionally uncommon. We present a 46-year-old woman with hoarseness and cough in whom flexible laryngoscopy demonstrated mucosal swelling over the right arytenoid cartilage. Magnetic resonance imaging revealed a 15 × 10 mm lesion that was isointense on T1-weighted images and heterogeneously hyperintense on T2-weighted images, with no diffusion restriction and heterogeneous contrast enhancement. Histopathological examination confirmed the diagnosis of neurofibroma. The lesion was completely excised using a CO2 laser under microlaryngoscopic guidance. The patient's symptoms resolved postoperatively, and no recurrence was observed during follow-up. Although laryngeal neurofibromas lack specific radiological features, magnetic resonance imaging plays a key role in evaluating lesion extent and in supporting the differential diagnosis, particularly by demonstrating the absence of diffusion restriction. To the best of our knowledge, this is the first reported case of an arytenoid cartilage neurofibroma with subglottic extension. Histopathological evaluation remains essential for definitive diagnosis, whereas minimally invasive CO2 laser excision represents an effective treatment option for small and localized lesions.
Klippel-Feil syndrome (KFS) is a rare, complex syndrome characterized by abnormal fusion of cervical vertebrae. This case highlights the effectiveness of conservative management in KFS patients without neurological deficits. We reported the case of an 18-year-old Iraqi male presenting a short neck, low back hairline, winged right scapula, and scoliosis after physical examination and deformities of cervical spine fusion, kyphoscoliosis and Sprengel's deformity after imaging tests. Clinical and radiological diagnosis shows KFS. After conservative treatment-including a corrective collar, cervical traction (5 kg), and targeted physiotherapy for 12 months-significant reduction in neck pain and an increase in cervical range of motion were recognized. This case emphasizes the efficiency of conservative management in KFS patients classified as Samartzis Type II with no neurological disabilities.
Arterial vasospasm is a clinically significant entity that can lead to significant morbidity and, in some cases, even mortality. Although vasospasm most commonly occurs in coronary and cerebral arteries, it can occur in any vessel, including the aorta. This case report describes a favorable clinical outcome following prompt recognition and management and introduces a memorable imaging sign-the "triple adrenal"-to aid identification. To reduce adverse outcomes, radiologists should be aware of aortic vasospasm and the agents and conditions that precipitate it. Given its rarity, aortic vasospasm may be challenging to diagnose. As with any ischemic event, reducing time to reperfusion is critical in preventing irreparable damage.
