Dermatomyositis (DM) is an idiopathic inflammatory myopathy with cutaneous and systemic manifestations influenced by autoantibody profiles. We report a rare case of anti-nuclear matrix protein 2 (anti-NXP2)-antibody-positive DM in a previously healthy man in his 30s presenting with fulminant proximal muscle weakness, severe dysphagia requiring percutaneous endoscopic gastrostomy, massive anasarca (>30 kg fluid overload), respiratory failure requiring mechanical ventilation and tracheostomy, and characteristic cutaneous manifestations. MRI demonstrated diffuse myositis and elevated muscle enzymes with anti-NXP2 antibody positivity supporting the diagnosis. Treatment with pulse corticosteroids, intravenous immunoglobulin and subsequent azathioprine resulted in biochemical and clinical improvement, although the course was complicated by pulmonary embolism, pneumonia and gastrointestinal bleeding. Following prolonged immunosuppression and intensive multidisciplinary rehabilitation, the patient achieved substantial functional recovery. This case highlights the potential reversibility of even fulminant anti-NXP2-positive DM with timely aggressive treatment and rehabilitation.

Bilateral adrenal infarction in pregnancy is a rare but potentially life-threatening condition that can lead to acute adrenal insufficiency and is often misdiagnosed due to nonspecific symptoms. We report a 25-year-old primigravida at 34 weeks presenting with abdominal and lumbar pain, fever, and vomiting, initially treated as acute pyelonephritis. Clinical deterioration with tachypnea and metabolic acidosis prompted further investigations. Computed tomography pulmonary angiography ruled out pulmonary embolism, while contrast-enhanced abdominal computed tomography revealed bilateral non-enhancing adrenal enlargement. Serum cortisol was inappropriately low (128.2 nmol/L), supporting acute adrenal insufficiency. Immediate intravenous hydrocortisone and therapeutic anticoagulation led to rapid improvement. The patient delivered vaginally at 38 weeks under epidural analgesia with stress-dose corticosteroids. This case highlights the importance of early imaging and prompt corticosteroid therapy in pregnant patients with unexplained persistent abdominal pain.

Inferior vena cava (IVC) agenesis is a rare congenital anomaly (prevalence 0.0005%-1%) often asymptomatic but can be complicated by deep vein thrombosis, particularly in the presence of acquired thrombophilia. There are 2 major presentations reported in literature, infrahepatic IVC agenesis associated mostly with lower-limb thrombosis and intrahepatic IVC agenesis associated frequently with splanchnic thrombosis and pulmonary embolism. We report the case of a 38-year-old man presenting with chronic bilateral leg ulcers evolving for 3 years. Cross-sectional imaging demonstrated partial agenesis of intra-hepatic IVC and complete agenesis of the infra-hepatic IVC up to the iliac bifurcation, a massive compensatory collateral network involving the azygos vein, hemiazygos, lumbar, and abdominal parietal systems, as well as multiple venous thrombosis of the portal vein, mesenteric vein, azygos vein and lower-limbs. The iliac veins drained via ascending lumbar veins to the hypertrophied azygos system. Morphology CT analysis showed a focal right renal infarct, but no atrophy was noted. Laboratory workup revealed a probable antiphospholipid syndrome (APS) and severe antithrombin III deficiency (22%), nephrotic syndrome, and alteration in glomerular filtration. This case illustrates the importance of recognizing radiological signs of IVC agenesis, particularly in the presence of atypical thrombosis or unexplained leg ulcers. The association with probable APS, multiple visceral thrombosis and renal function altered, makes this case exceptionally rare and educationally important.

BACKGROUND Differentiating traumatic tricuspid regurgitation (TR) from infective endocarditis (IE) is clinically crucial in patients presenting with abnormal tricuspid valve findings after blunt chest trauma. Particularly, papillary muscle rupture caused by trauma can produce mobile valvular structures that closely resemble vegetations, making accurate diagnosis challenging in the acute setting. CASE REPORT A man in his 60s with pulmonary sarcoidosis was admitted after a 5-m fall, sustaining multiple fractures. Preoperative transthoracic echocardiography revealed a 7-mm mobile structure on the anterior tricuspid leaflet with flail motion and severe TR. Because of fever, IE was suspected; however, blood cultures and further investigations excluded IE. A diagnosis of traumatic TR due to papillary muscle rupture was made. Although the patient was hemodynamically stable under medical therapy, the heart team recommended surgery to prevent long-term heart failure. Four months after fracture repair, tricuspid valve repair with artificial chordae and annuloplasty was performed. The surgical findings were fully consistent with the preoperative diagnosis, and pathological examination of the ruptured papillary muscle demonstrated coagulative necrosis without significant inflammatory infiltration, supporting a traumatic etiology. At 4-year follow-up, he remains stable without signs of heart failure exacerbation. CONCLUSIONS Accurate differentiation between traumatic TR due to papillary muscle rupture and IE is essential, as misclassification may lead to unnecessary antimicrobial therapy or delayed surgical intervention. This case highlights how mobile traumatic lesions can closely mimic vegetations and underscores the importance of comprehensive evaluation to guide appropriate management and optimize outcomes.

Acute non-high-risk pulmonary thromboembolism (PTE) is generally relieved within months of anticoagulation treatment initiation. However, some patients experience complications. This study aimed to assess the efficacy of urokinase thrombolysis in intermediate-risk PTE using a modified pulmonary artery obstruction index (PAOI). We retrospectively assessed the data of 85 patients with acute PTE and venous thromboembolism of the lower extremities treated between January 2018 and January 2023. All patients underwent inferior vena cava filter implantation and thrombolysis via the dorsal foot vein. We evaluated thrombolysis efficacy using computed tomography pulmonary angiography, Doppler echocardiography, D-dimer (D-D) levels, and PAOI. The effects of age, preoperative D-D level, urokinase dosage, and thrombolysis time on efficacy and safety were analyzed. Complete thrombus dissolution in pulmonary arteries occurred in 67.1% of patients (thrombolysis efficacy, 100%). The modified PAOI/40, artery diameter, and artery-to-aorta diameter ratio showed significant improvements post-thrombolysis. The average daily usage of urokinase ranged from 36.36 × 104 to 100 × 104 units. Spearman rank correlation test revealed a relationship between PAOI change rate and pre-intervention D-D level (r = 0.291; P = .007) and average daily urokinase dosage (r = -0.341; P = .001). In multinomial logistic regression, total urokinase dosage (odds ratio = 1.052, P = .032) and thrombolysis time (odds ratio = 0.012, P = .032) were identified as significant factors. During follow-up, thromboembolism recurred in 2 cases; clinical manifestations of right heart insufficiency were not observed in other patients. Higher preoperative D-D levels may suggest a better thrombolytic effect in intermediate-risk acute PTE. An appropriate daily dosage of urokinase may yield good therapeutic effects. Managing urokinase dosage and duration helps prevent serious bleeding complications.

GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIα/β (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIα/β becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIα/β are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIα/β.

A 14-year-old adolescent boy with repaired Tetralogy of Fallot and Fontan-type physiology presented with intermittent hematochezia and poor weight gain. Colonoscopy revealed multiple pedunculated polyps throughout the colon, including several larger than 1 cm, and upper endoscopy demonstrated gastric polyposis. Histology confirmed hamartomatous juvenile polyps without dysplasia, fulfilling diagnostic criteria for juvenile polyposis syndrome. Echocardiography showed moderate-to-severe pulmonary insufficiency, branch pulmonary artery stenosis, and mildly depressed ventricular function, consistent with residual hemodynamic compromise after complex congenital heart disease repair. Multidisciplinary management resulted in significant nutritional improvement. Although genetic testing for SMAD4/BMPR1A was not available, the diagnosis was fully supported by clinical, endoscopic, and histologic criteria. This case highlights the rare coexistence of juvenile polyposis syndrome and congenital heart disease and underscores the importance of early recognition and cancer-risk surveillance in complex pediatric patients.