Introduction: Primary pleural angiosarcoma is an extremely rare malignancy of the pleura arising from the vascular endothelial cells. The disease is highly aggressive and associated with a poor prognosis. Clinical and imaging features are non-specific often leading to delays in diagnosis. Case description: We report a case of primary pleural epithelioid angiosarcoma in a 66-year-old man presenting with a 2-month history of progressive dyspnoea, anorexia and significant weight-loss. Chest imaging revealed a large pleural effusion which was haemorrhagic on sampling. Multiple haemorrhagic nodules on parietal pleura were biopsied at medical thoracoscopy. Tumour morphology and immunocytochemical analysis with positive staining for endothelial markers CD31 and ERG supported the diagnosis of pleural epithelioid angiosarcoma. He was treated with palliative chemotherapy with some initial response but developed rapid disease progression after 6 months resulting in his death. Conclusion: Pleural angiosarcoma causes diagnostic uncertainty due to its rarity, non-specific presentation and inconclusive cytology. Histopathology and immunohistochemistry are crucial for prompt diagnosis of this aggressive disease.
Introduction: Small bowel varices are a rare manifestation of portal hypertension, accounting for only 1–5% of variceal gastrointestinal bleeding. Their diagnosis and management remain challenging because of their uncommon occurrence, difficult anatomical accessibility, and lack of standardized treatment strategies. We report a case of refractory small bowel variceal bleeding successfully treated with splenic artery embolization after failure of conventional therapeutic options. Case presentation: A 45-year-old man with liver cirrhosis, cholangiocarcinoma with bone metastases, ulcerative colitis, and previous partial hepatectomy presented with haemorrhagic shock secondary to severe lower gastrointestinal bleeding. Endoscopic evaluation suggested a small bowel source, while computed tomography angiography demonstrated portal vein stenosis, superior mesenteric vein thrombosis, portal hypertension, and actively bleeding small bowel varices. Portal vein stenting failed to control the haemorrhage, and transjugular intrahepatic portosystemic shunt (TIPS) placement was unsuccessful because of extensive hepatic vein thrombosis related to tumour burden. Salvage splenic artery embolization was subsequently performed using two vascular plugs, resulting in immediate haemostasis without recurrent bleeding. Follow-up imaging confirmed the absence of active bleeding. The only post-procedural complication was partial splenic infarction, which was managed conservatively. Discussion: Splenic artery embolization reduces portal venous inflow by decreasing splenic blood flow, thereby lowering portal pressure and decompressing ectopic varices. Although primarily described for esophagogastric varices and other complications of portal hypertension, its use in small bowel variceal bleeding remains rarely reported. This case highlights splenic artery embolization as an effective rescue therapy when TIPS is technically impossible or unsuccessful. Conclusion: Splenic artery embolization may represent a safe, minimally invasive, and life-saving therapeutic option for refractory small bowel variceal bleeding in carefully selected patients who are not candidates for conventional interventions. Multidisciplinary collaboration is essential to optimize outcomes, and further studies are needed to better define the role of this technique in the management of ectopic variceal bleeding.
Introduction: Aromatic L-amino acid decarboxylase is a critical enzyme required for the final step in the synthesis of dopamine and serotonin, two important neurotransmitters. Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder of neurotransmitter biosynthesis caused by pathogenic variants in the dopa decarboxylase (DDC) gene. An absence or decrease of dopamine and serotonin levels may lead to severe motor and neurodevelopmental impairments. It classically presents within the first 6 months of life with a triad of hypotonia, oculogyric crises and developmental delay. Adult-onset presentations are extremely rare and underreported. Case description: We report the case of a 53-year-old man who presented with progressive left-sided bradykinesia, stiffness, rigidity and resting tremor over a year and a half. Examination demonstrated asymmetrical parkinsonism including facial hypomimia, cogwheel rigidity and a reduced arm swing on the left. A trial of levodopa of up to 1000 mg levodopa equivalent daily dose did not improve his condition. Magnetic resonance imaging of the brain was reported as normal without radiological signs of atypical parkinsonian neurodegenerative disorders. An autoimmune and onconeural antibody panel was negative. The patient’s symptoms progressively deteriorated and he noted dysphagia requiring a tailored feeding plan Dopamine transporter single-photon emission computed tomography was performed demonstrating a marked reduction of nigrostriatal synaptic integrity at the right putamen and modest reduction at the left putamen. Targeted genetic testing identified a homozygous missense variant [NM_000790.3: c.710T>C p. (Phe237Ser)] in the DDC gene, establishing the diagnosis of AADC deficiency. Levodopa was substituted with a direct dopamine agonist (ropinirole) which resulted in a modest clinical improvement; however, dose escalation was limited by nausea. The patient subsequently developed neuropsychiatric symptoms which were managed with mirtazapine and sodium valproate. Conclusion: This case expands the recognised phenotypic spectrum of AADC deficiency and highlights the importance of considering neurotransmitter biosynthesis defects in levodopa-unresponsive adult parkinsonism.
CARMIL2 deficiency is a rarely occurring, autosomal recessive immunodeficiency disease, manifested as an impairment in CD28-mediated T-cell costimulation, actin cytoskeleton dysregulation and a broad immunological disturbance across T, B and NK cell lineages. It has been strongly associated with an early onset of inflammatory bowel disease-like enteropathies, recurrent infections, dermatitis and eczema. While gastrointestinal involvement is well documented, celiac disease has not yet been reported in this context. We present a case of a 23-year-old Saudi male with genetically confirmed CARMIL2 deficiency who developed true celiac disease demonstrated through a comprehensive gastrointestinal evaluation, with an extensive diagnostic workup that included upper endoscopy with duodenal biopsies, histopathological examination and celiac serologies (tTG IgA, tTG IgG and DGP IgA/IgG).
Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome represents a spectrum of Müllerian duct anomalies. MRKH type I involves isolated agenesis of the uterus and vagina, while MRKH type II involves extra-genital defects most commonly affecting the skeletal, renal, cardiovascular and auditory systems with functional ovaries along with agenesis of the uterus and vagina. Case description: A 19-year-old female presented with exertional dyspnoea, fatigue and intermittent palpitations for the last 2 years. Clinical evaluation revealed a classic machinery murmur at the left second intercostal space, suspecting the diagnosis of patent ductus arteriosus (PDA), which was confirmed by two-dimensional echocardiography. She also presented with primary amenorrhea, for which an ultrasound of the abdomen and pelvis was done, which showed a rudimentary uterus and absence of the upper third of the vagina with normal ovaries. Hence, a diagnosis of MRKH syndrome type II was made. A cardiac computed tomography scan revealed a persistent left superior vena cava (PLSVC), which is a rare association in an MRKH patient. There was also the presence of an extrarenal pelvis seen on a kidney, ureter, bladder (KUB) X-ray. Conclusion: This case highlights the rare association of MRKH syndrome type II with PDA, PLSVC, and the extrarenal pelvis, emphasising the need for comprehensive multisystem evaluation. These patients need effective counselling regarding sexual well-being and appropriate management of extra genital manifestations.
Introduction: Mesalazine (5-aminosalicylic acid, 5-ASA) is the cornerstone treatment for mild-to-moderate ulcerative colitis. Although generally well tolerated, rare cases of drug-induced myocarditis have been reported. Distinguishing mesalazine-induced myocarditis from myocarditis related to inflammatory bowel disease is essential, as management differs substantially. Case description: A 43-year-old man with recently diagnosed ulcerative colitis presented with acute chest pain, fever and elevated cardiac biomarkers eight days after initiation of oral mesalazine (3 g/day). Electrocardiography demonstrated diffuse ST-segment elevation, while echocardiography showed preserved left ventricular systolic function; coronary angiography excluded obstructive coronary artery disease. During hospitalisation, worsening gastrointestinal symptoms prompted escalation of mesalazine to 4.8 g/day. Within 24 hours, the patient developed recurrent chest pain, fever and a marked increase in troponin, inflammatory markers and NT-proBNP. Viral and autoimmune investigations were negative. The close temporal relationship between symptom recurrence and dose escalation raised suspicion of mesalazine-induced myocarditis. Following discontinuation of mesalazine, rapid clinical and biochemical improvement was observed. A cardiac magnetic resonance imaging (MRI) performed on day 7 demonstrated myocardial oedema on T2-weighted sequences and non-ischaemic epicardial late gadolinium enhancement involving the apical and inferolateral segments. This fulfilled both T2-based and T1-based criteria of the 2018 modified Lake Louise criteria for acute myocarditis. At follow-up, the patient remained asymptomatic with complete recovery of ventricular function. Conclusion: Mesalazine-induced myocarditis is an uncommon but potentially serious adverse reaction that may mimic an extraintestinal manifestation of ulcerative colitis. Early recognition, careful assessment of drug exposure chronology and prompt withdrawal of mesalazine are crucial to prevent complications. Cardiac MRI plays a central role in confirming the diagnosis.
Introduction: Spinal implant infections (SIIs) are a rare but well-known complication of spinal surgery. Early SIIs are usually caused by Staphylococcus aureus, beta-haemolytic streptococci, or Gram-negative bacilli. On the other hand, late-onset SIIs are usually caused by coagulase-negative staphylococci or Cutibacterium acnes. Case description: Here, we present a rare case of a late-onset SII in a 24-year-old dentist, caused by oral streptococcal flora (Streptococcus salivarius) that was probably inoculated into his conjunctival mucous membrane by a blood splash during a dental procedure, seven years after spinal fusion. He was initially treated broadly with empiric antibiotics as the organism was not identified, until it was later isolated from an intraoperative tissue culture. After that, he was given targeted antimicrobial therapy along with implant removal. Discussion: The conjunctival mucosa is a well-established route of entry for blood-borne pathogens, particularly viral organisms, in health-care settings. Conclusion: This treatment strategy resulted in significant improvement of his symptoms and general condition.
Introduction: Vacuoles, E1 Enzyme, X-linked, Auto-inflammatory, Somatic (VEXAS) syndrome is a late-onset autoinflammatory disease caused by somatic mutations in the UBA1gene. Macrophage activation syndrome (MAS) is a rare but life-threatening hyperinflammatory condition whose association with VEXAS syndrome remains poorly described. Case description: We report three cases of MAS occurring in men aged 65 to 72 years with genetically confirmed VEXAS syndrome. In all cases, MAS was characterized by fever, recent-onset cytopenias, marked hyperferritinaemia, and a high probability of MAS according to the H-score (>93%). Bone marrow examination demonstrated haemophagocytosis in two patients and numerous activated macrophages in one. Extensive investigations failed to identify infectious, malignant, or drug-related triggers. In one patient, MAS preceded the diagnosis of VEXAS syndrome by several years. In the two others, MAS occurred during the course of established VEXAS disease and was considered a manifestation of disease flare. Treatment included high-dose corticosteroids, with additional anakinra in one patient and etoposide in another, resulting in rapid clinical and biological improvement. One patient experienced MAS relapse following granulocyte colony-stimulating factor exposure during azacitidine treatment, whereas no recurrence was observed in the other two patients during follow-up. Conclusion: MAS appears to be an underrecognized and potentially severe complication of VEXAS syndrome that may occur in the absence of an identifiable infectious or malignant trigger. Diagnostic overlap between both conditions may delay recognition. MAS should be suspected in VEXAS patients presenting with acute cytopenias, marked hyperferritinaemia, and organ involvement. Early use of the H-score, bone marrow examination, and prompt immunosuppressive treatment are essential to improve outcomes.
Introduction: Pregnancy in women with concurrent systemic lupus erythematosus (SLE), autoimmune hepatitis and portal hypertension is exceptionally rare, with fewer than 10 reported cases of any two conditions together and none describing the full triad with detailed haemostatic assessment. Case description: A 26-year-old woman at 9–10 weeks of gestation presented with abnormal liver enzymes, thrombocytopenia, and later developed subacute cutaneous SLE. Autoimmune evaluation revealed positive anti-double-stranded deoxyribonucleic acid (45 IU/ml), low complement C3 (0.68 g/l), and elevated serum IgG (18.2 g/l) supporting a diagnosis of SLE and probable autoimmune hepatitis. Doppler ultrasound confirmed compensated portal hypertension with splenomegaly. Multidisciplinary management included methylprednisolone, hydroxychloroquine, and low-dose aspirin. The platelet count remained stable (85–105 × 109/l) throughout pregnancy. Second-trimester endoscopy showed grade I varices without red signs. Planned caesarean section was performed at 34–35 weeks after foetal lung maturation, delivering a female neonate weighing 2,270 g with Apgar scores 8/9. Maternal and neonatal outcomes were favourable. Conclusion: Favourable outcomes are achievable despite the concurrent burden of SLE, autoimmune hepatitis (AIH) and portal hypertension in pregnancy. Key points include interpreting thrombocytopenia as a multifactorial sign, balancing bleeding and thrombosis risks, and delivering individualised multidisciplinary care.
Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare hereditary cause of mild hypercalcemia that usually follows a benign clinical course. Calcific aortic stenosis (AS) in a trileaflet aortic valve is uncommon before 65 years of age. Emerging evidence suggests that disturbances in calcium metabolism may contribute to aortic valve calcification. Case description: A 58-year-old woman presented in 2012 with acute heart failure (HF) and left ventricular ejection fraction (LVEF) of 32%. Coronary angiography was normal, and endomyocardial biopsy was not suggestive of myocarditis. She achieved complete recovery with guideline-directed medical therapy, consistent with resolved idiopathic cardiomyopathy. Echocardiography at that time showed only mild aortic valve thickening. She had chronic mild hypercalcemia consistent with FHH, supported by family history, normal parathyroid hormone levels, and fractional excretion of calcium <1%. Genetic testing was negative. During the following decade, progressive aortic valve calcification was documented. In 2023, echocardiography revealed severe AS with a functionally bicuspid valve (peak/mean gradients 105/69 mmHg; valve area 0.5 cm2) and LVEF of 41%, presenting with a second episode of acute HF. She underwent surgical aortic valve replacement with full symptomatic recovery. Conclusion: This case suggests a possible association between FHH and accelerated valvular calcification leading to premature severe AS. It is also notable for two separate HF episodes caused by different aetiologies: reversible cardiomyopathy initially, followed a decade later by severe AS. Although FHH is generally considered benign, chronic hypercalcemia may justify closer long-term cardiovascular surveillance.
Introduction: Neurotoxicity due to contrast extravasation and disruption of the blood–brain barrier is a rare event in neuroendovascular procedures called contrast-induced neurotoxicity (CIN). Although a correct diagnosis may be difficult after mechanical thrombectomy, radiologically, CIN may be similar to haemorrhage or malignant oedema. Case description: A 59-year-old male with a history of hypertension, paroxysmal atrial fibrillation and recent non-ST-elevation myocardial infarction presented with acute ischemic stroke secondary to distal left middle cerebral artery occlusion. There was successful reperfusion with mechanical thrombectomy. The immediate post-procedure computed tomography scan revealed hyper attenuation of the left frontotemporal gyral with oedema, but no evidence of haemorrhage, which matched with the diagnosis of CIN. Rapid healing of hyper attenuation and evolution to a stable infarct was observed on serial computed tomography scans obtained over 24-48 hours. The patient needed prolonged ventilatory support, which was provided by a tracheostomy and there was no haemorrhagic transformation. Conclusion: This case serves as an example of a benign radiological mimic after thrombectomy, namely CIN. Understanding its imaging appearances and the need for serial CT imaging helps to prevent misdiagnosis and unnecessary discontinuation if anti-thrombotic treatment. There is no evidence of self-limitation and there is support for management of CIN.
Spontaneous pneumomediastinum is a recognized complication of connective tissue disease associated interstitial lung disease, most extensively described in dermatomyositis. Despite rheumatoid arthritis being the most common connective tissue disease with pulmonary involvement, spontaneous pneumomediastinum in rheumatoid arthritis associated lung disease has been reported only once previously. Rheumatoid arthritis uniquely causes two distinct forms of structural lung injury (interstitial lung disease and bronchiectasis) both linked to seropositive autoimmunity. An 83-year-old woman, a never-smoker with seropositive rheumatoid arthritis, progressive pulmonary fibrosis, left lower lobe bronchiectasis, low body mass index, and iatrogenic lymphopenia developed extensive pneumomediastinum during community-acquired pneumonia. Computed tomography scan demonstrated pneumomediastinum with subcutaneous emphysema, emphysematous lungs with diffuse interstitial scarring, bronchiectasis, and lobar consolidation. Conservative management with antibiotics achieved complete radiographic resolution at 8 weeks with no recurrence at 12 weeks. We hypothesize a three-component pathophysiologic framework: structural alveolar fragility from interstitial lung disease and emphysema may provide the substrate for alveolar rupture, while infection-driven coughing from true airway bronchiectasis may serve as the mechanical trigger via the Macklin effect. In rheumatoid arthritis, all three components appear driven by a shared seropositive autoimmune process. This mechanistic profile may differ fundamentally from dermatomyositis, where spontaneous pneumomediastinum is thought to reflect rapidly progressive parenchymal destruction, suggesting that dermatomyositis-derived mortality data may not be directly applicable to rheumatoid arthritis. Spontaneous pneumomediastinum in seropositive rheumatoid arthritis may follow a favourable trajectory when the mechanical trigger is reversible. High titer seropositivity, low body mass index, and iatrogenic immunosuppression may identify a convergent risk phenotype.
Introduction: Lymphocytic-variant of hypereosinophilic syndrome (L-HES) is a clonal T-cell disorder driven by an aberrant Th2 response, typically featuring CD3- CD4+ T-cell expansion, eosinophil-mediated tissue injury, most commonly skin lesions, and lymphadenopathy. Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive peripheral T-cell lymphoma of follicular helper T-cell origin; it can present with similar clinical features such as lymphadenopathy, rash and eosinophilia. Histological and immunophenotypic features may also be common in both diseases, thus creating a diagnostic overlap. Case description: We report the case of a 53-year-old man with a medical history of allergic rhinitis who developed a diffuse, persistent maculopapular rash with pruritis. Physical examination revealed inguinal lymphadenopathy without organomegaly, laboratory investigations demonstrated marked eosinophilia, and hypergammaglobulinemia, while additional testing excluded any infectious or autoimmune aetiologies. Lymphocytic immunophenotyping on peripheral blood and skin biopsy revealed a high proportion of CD3-CD4+ cells exhibiting a classic TH2 phenotype, consistent with L-HES. However, lymph node histology demonstrated architectural remodelling with intrafollicular infiltration by atypical T lymphocytes showing a T-cell follicular helper phenotype, findings indicative of AITL. The coexistence of L-HES and AITL was established. The patient underwent polychemotherapy, resulting in rapid clinical improvement of skin lesions with sustained remission at 6 months of follow up. Conclusion: L-HES and AITL may coexist, or L-HES may precede overt lymphoma, suggesting clonal evolution within a shared biological spectrum. This case highlights diagnostic pitfalls and emphasizes the need for integrated clinical, pathological, flow cytometric and molecular evaluation.
Background:Balloon angioplasty can lead to multiple complications, such as myocardial perforation and dissection of coronary arteries. Device dislodgment during percutaneous coronary intervention (PCI) is a rare but potentially life-threatening complication. Case description:We report on a 67-year-old woman presenting with acute coronary syndrome due to in-stent restenosis of the left circumflex artery, treated with a drug-coated balloon (DCB) following lesion preparation. During DCB retrieval resistance was encountered, and angiography revealed separation of the balloon from its shaft with distal embolisation. Despite this, thrombolysis in myocardial infarction (TIMI) flow grade 3 was preserved. After multidisciplinary discussion, conservative management was chosen due to the distal location of the embolised device and risks associated with retrieval. Final angiography showed no procedural complication, and at 12-month follow-up, the patient remained asymptomatic without ischaemic or device-related events. Conclusion:This example shows that in certain patients with intact coronary flow and no procedural complications, conservative therapy of distal DCB embolisation might be a safe and feasible strategy. LEARNING POINTS:This case highlights that, in selected patients, leaving an embolised device in situ may be a safe and feasible strategy when distal flow is preserved and procedure risks outweigh benefits of retrieval.
Introduction:Hypereosinophilic syndrome (HES) associated with advanced adenocarcinoma of the prostate is an exceptionally rare paraneoplastic condition. Available evidence suggests that eosinophilia may correlate with tumour progression and poor prognosis. Cutaneous manifestations, including severe pruritus and angioedaema, may significantly impair quality of life and represent particularly challenging symptoms in a palliative care setting. Pruritus management requires individualised multidisciplinary approaches including corticosteroids, antihistamines, gabapentinoids, antidepressants, opioid modulation and supportive care measures. In refractory cases, severe pruritus associated with HES may become a source of profound suffering and in end-of-life care may require palliative sedation to relieve otherwise intolerable distress. Case description:We report the case of a patient with prostatic acinar adenocarcinoma who developed paraneoplastic HES, presenting with severe refractory pruritus and recurrent angioedaema. Despite multiple symptomatic treatments, the patient experienced progressive symptom burden with significant impairment in quality of life, ultimately requiring terminal palliative sedation during end-of-life care. Conclusion:This case highlights the diagnostic challenges of HES, the importance of malignancy progression and the severe impact of uncontrolled eosinophil-mediated symptoms in advanced cancer. LEARNING POINTS:Paraneoplastic hypereosinophilic syndrome should be considered in patients with advanced prostate adenocarcinoma and persistent unexplained eosinophilia after exclusion of allergic, infectious, autoimmune, endocrine and haematologic causes.In paraneoplastic hypereosinophilic syndrome, the severity of pruritus may not correlate with peripheral eosinophil counts, and symptom burden can persist despite corticosteroid therapy and normalisation of eosinophilia.To our knowledge, this is one of the first reported cases of paraneoplastic hypereosinophilic syndrome secondary to metastatic prostate adenocarcinoma in which refractory pruritus became the indication for palliative sedation.
