American Journal of Case Reports最新文献

BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2). It is characterized by a distinctive craniofacial appearance, high myopia, vitreoretinal degeneration, hearing loss, and early-onset arthritis. Type 1, the most common autosomal-dominant form, results from COL2A1 variants and is strongly associated with ocular complications, including high myopia, vitreous degeneration, and retinal detachment. Early recognition of systemic and ocular findings is essential for timely management and genetic counseling. CASE REPORT An 8-year-old Saudi girl presented to the emergency department with sudden deterioration of vision in the right eye. External examination revealed midfacial hypoplasia. Ophthalmologic evaluations, including best-corrected visual acuity measurement, fundus photography, optical coherence tomography, and genetic testing, were performed. Rhegmatogenous retinal detachment was identified and surgically managed. Revision surgery was performed; at 3 years post-revision, best-corrected visual acuity in the right eye had improved to 20/30. The family history included childhood retinal detachment in the patient's father. Clinical exome sequencing identified a novel heterozygous COL2A1 frameshift variant, c.3642delT (p.Gly1215Alafs*12), that introduced a premature stop codon; Sanger sequencing confirmation and segregation analysis were consistent with pathogenicity. CONCLUSIONS This report describes a previously undocumented COL2A1 frameshift variant causing Stickler syndrome type 1. The truncating mutation may be associated with the early-onset, ocular-predominant presentation observed in the present case. This variant expands the known COL2A1 mutational spectrum and underscores the importance of molecular testing for accurate diagnosis and family counseling in pediatric collagenopathies.

BACKGROUND Biliary neuroendocrine neoplasm (NEN) arising from the extrahepatic bile duct is rare, with an incidence of 0.2% among gastroentero-hepatopancreatobiliary NEN cases. Biliary neuroendocrine carcinoma (NEC) is an extremely rare high-grade malignancy that requires multidisciplinary treatment, including surgery, chemotherapy, and radiation. However, there have been only a few reports on the combined therapy for biliary NEC. CASE REPORT A 74-year-old man was referred to our hospital with a chief concern of obstructive jaundice. He was diagnosed with perihilar biliary NEC. The tumor primarily involved the confluence of the hepatic and left hepatic ducts. After 4 courses of systemic chemotherapy with cisplatin and etoposide (EP regimen), the tumor showed partial shrinkage. The patient underwent left and caudate hepatectomy with combined resection and reconstruction of the extrahepatic bile duct. Intraoperatively, strong adhesion between the right hepatic artery and the dorsal surface of the tumor was observed, requiring combined resection and reconstruction of the right hepatic artery. Postoperatively, the patient was treated with adjuvant chemotherapy (EP regimen) for 6 months. Ten months after surgery, he was diagnosed with multiple aggressive recurrences that were refractory to multimodal therapies. Eighteen months after the initial diagnosis and 12 months after surgery, he died of liver failure due to cholangitis. CONCLUSIONS This report presents the first case of perihilar biliary NEC that underwent perioperative chemotherapy and radical liver surgery. We believe that the introduction of perioperative chemotherapy is essential to achieve a better prognosis for perihilar biliary NEC, given its oncological malignancy and surgical invasiveness.

BACKGROUND Guttate psoriasis is a form of psoriasis that often occurs following infections and is most commonly triggered by group A Streptococcus. The link between streptococcal pharyngitis and the development of guttate psoriasis is well documented in younger populations; however, this presentation in older adults is less common. Additionally, older adult populations can have multiple comorbidities that could influence the development and clinical course of guttate psoriasis. CASE REPORT We report the case of a 66-year-old woman with multiple comorbidities, including type 2 diabetes mellitus, vitamin D deficiency, colon cancer treated with surgical resection, and endometriosis, who developed guttate psoriasis following a confirmed episode of streptococcal pharyngitis. Initially, the patient's condition was misdiagnosed as tinea versicolor, leading to delays in appropriate treatment. After further dermatologic evaluation and laboratory investigations, the diagnosis of guttate psoriasis was more firmly established, allowing for more tailored treatment decisions. CONCLUSIONS This case highlights guttate psoriasis as a rare post-streptococcal complication in a 66-year-old woman, emphasizing the importance of clinical awareness and accurate diagnosis in older adults with recent upper respiratory infections. Although the exact mechanism of guttate psoriasis development remains unclear, its distinct clinical features allow for its recognition in patients of all ages. Guttate psoriasis also contributes to the understanding of the varied clinical manifestations of streptococcal pharyngitis, particularly in patients with complex medical histories.

BACKGROUND Iodine-induced sialadenitis (iodine-induced mumps), first described in 1956, has been reported in more than 100 cases in the medical literature. It involves acute swelling of the salivary glands, resembling the effects of the mumps virus, after administration of iodine-containing compounds. It is most commonly observed after iodinated contrast administration, although the exact pathophysiology remains unclear. CASE REPORT A 37-year-old woman underwent a cervical-cerebral angiogram, followed by venous sinus stenting 1 week later for idiopathic intracranial hypertension. Approximately 3 h after the procedure, she developed painful, unilateral swelling of the right parotid and submandibular glands. Because of progressively worsening respiratory distress, she required intubation and mechanical ventilation for 3 days. Imaging confirmed clinically significant soft-tissue swelling. Treatment included corticosteroids and supportive care, which resulted in complete symptom resolution. Allergy testing after discharge revealed selective hypersensitivity to the iopamidol contrast agent, with no reaction to iohexol. CONCLUSIONS This case illustrates a rare but potentially life-threatening instance of iodine-induced mumps in a patient without renal impairment. Most cases are self-limiting, but this report underscores the importance of recognizing airway compromise as a serious complication. Clinicians should maintain a high index of suspicion for this condition when patients present with acute salivary gland swelling after contrast exposure. Increased awareness may guide safer imaging practices and reduce unnecessary diagnostic procedures.

BACKGROUND Bronchogenic cysts are a rare congenital malformation of primitive foregut development, predominantly located in the thorax. However, they can also be found in various atypical locations, including the retroperitoneal space. Retroperitoneal bronchogenic cysts are exceedingly rare. The diagnosis of retroperitoneal bronchogenic cysts presents considerable difficulty owing to their rarity and the absence of distinctive clinical and imaging characteristics. CASE REPORT This study reports 6 surgically confirmed cases of retroperitoneal bronchogenic cysts at our institution. One patient presented with abdominal pain, while the others were asymptomatic and discovered incidentally through imaging. All the cysts were found adhered to the left diaphragm on cross-sectional imaging. The cysts exhibited relatively high attenuation on unenhanced computed tomography (CT) and showed no or mild enhancement on contrast-enhanced CT. Only 1 case was accurately diagnosed with a retroperitoneal bronchogenic cyst prior to surgery; the others were confirmed through postoperative histopathology. All patients underwent resections of the lesions through the retroperitoneal approach, and their recovery was uneventful. No evidence of recurrence was found during the follow-up period. CONCLUSIONS Retroperitoneal bronchogenic cysts should be considered in the differential diagnosis of a retroperitoneal mass, particularly if found on the left side and adhered to the diaphragm. The rarity of this disease presents the biggest preoperative diagnostic challenges. When masses suspected of retroperitoneal bronchogenic cysts appear solid on CT, magnetic resonance imaging (MRI) may be a valuable adjunct to reveal the cystic nature of these lesions. Minimally invasive surgical resection remains the gold standard for treatment. Prognosis is typically excellent after complete surgical resection.

BACKGROUND Angioleiomyoma is an uncommon benign soft-tissue tumor, typically found in the lower extremities. Angioleiomyoma is infrequently observed in the hand, and occurrences involving calcification are even less common. In patient with end-stage renal disease (ESRD) who receive hemodialysis, calcified angioleiomyoma can be challenging to distinguish diagnostically due to its resemblance to tumoral calcinosis. We report a unique case of calcified angioleiomyoma on the dorsum of the left hand in an ESRD patient undergoing long-term hemodialysis, focusing on clinical, imaging, and histopathological features. CASE REPORT A 46-year-old man, on maintenance hemodialysis for ESRD, presented with a painful, enlarging left-hand dorsal mass. Simple radiographs showed a well-defined soft-tissue mass with internal calcifications. Magnetic resonance imaging (MRI) revealed a well-circumscribed ovoid lesion with iso-intensity on the T1-weighted image and a heterogenous signal on the T2-weighted image, with no enhancement. He underwent complete marginal resection, and the histopathology confirmed angioleiomyoma with prominent dystrophic calcifications and positive smooth-muscle actin (SMA) immunostaining. No recurrence was seen at the 1-year follow-up. CONCLUSIONS This case highlights angioleiomyoma as a rare cause of painful hand nodules. Soft-tissue calcified masses must be differentiated from tumoral calcinosis and other benign tumors, especially in hemodialysis patients. Clinicopathologic and radiologic correlation are crucial for correct diagnosis and management.

BACKGROUND Melanoma differentiation-associated gene 5 (MDA5) is an intracellular sensor that detects double-stranded RNA viruses and triggers type I interferon pathways. Anti-MDA5 dermatomyositis (MDA5-DM) is an uncommon autoimmune subtype, often linked to rapidly progressive interstitial lung disease (RP-ILD) and sometimes presenting without obvious muscle weakness. It can appear in pulmonary, cutaneous-articular, or vascular forms, with RP-ILD carrying the worst prognosis. We describe 3 Emirati patients with MDA5-DM, each with a different clinical picture, organ involvement, and outcome. CASE REPORT Case 1: A 24-year-old man developed flu-like symptoms, rash, abnormal liver enzymes, and RP-ILD. His condition worsened despite high-dose steroids, cyclophosphamide, and plasma exchange; he required ECMO and died after 40 days. Case 2: A 62-year-old man with ILD presented with worsening dyspnea, weakness, and rash. He had high ferritin and lactate dehydrogenase levels, with positive anti-MDA5. He was treated with steroids, rituximab, nintedanib, and mycophenolate. High-resolution computerized tomography scans remained stable, but he required long-term oxygen after having pneumonia. Case 3: A 13-year-old boy had weight loss, stiffness, rash, and positive anti-MDA5. Magnetic resonance imaging confirmed myositis. He improved after steroids and intravenous immunoglobulin, with recovery of strength, weight gain, and normal function after prolonged treatment. CONCLUSIONS MDA5-DM is a rare and clinically diverse entity that can range from indolent skin-limited disease to life-threatening RP-ILD. This case series highlights the full clinical spectrum, from pediatric onset to fulminant adult disease. Multidisciplinary care, awareness of atypical presentations, and continued research into disease mechanisms and therapeutics are essential to improving survival in MDA5-DM.

An incorrect video was linked as Video 1. This has been corrected in the attached file. Reference: Marco Kaldas, Moneal Shah, Valentyna Ivanova, Saed Alnaimat, Diana Pashaieva, Ronald Williams, Anita Radhakrishnan. Takotsubo Syndrome Triggered by Immune Checkpoint Inhibitor-Induced Pneumonitis: A Multidisciplinary Diagnostic and Therapeutic Challenge.  Am J Case Rep 2026; 27:e950756. DOI: 10.12659/AJCR.950756.

BACKGROUND Left-sided portal hypertension (LSPH) is a rare condition that occurs when the splenic vein pressure elevated, which can lead to gastric varices, without abnormalities of hepatic function or esophageal varices. The main causes of LSPH are splenic vein compression, stenosis, and thrombosis. However, no cases of LSPH resulting from vascular malformation have been reported. In this case report, we describe our experience of a patient with LSPH caused by a splenic vein malformation. CASE REPORT The patient was a 53-year-old man who reported having melena for 2 weeks. Gastroscopy performed at another hospital revealed gastric varices, and abdominal contrast-enhanced computed tomography (CT) showed gastric fundal varices and splenic vascular malformation. The patient denied any history of pancreatitis, abdominal trauma, or related surgeries. After further examination, comprehensive imaging, including contrast-enhanced CT and magnetic resonance imaging (MRI), revealed tortuous vascular cluster between the splenic artery and vein, marked dilatation of the left gastric vein, and numerous collateral vascular branches surrounding the perigastric area, with no signs of cirrhosis and gastro-renal shunt or splenic-renal shunt. Therefore, we suspected he had LSPH caused by splenic arteriovenous malformation. To improve the melena, after analyzing the advantages and disadvantages of the surgical approach, we abandoned the embolization approach and opted for splenectomy and Hassab's operation. After Hassab's operation, LSPH caused by arteriovenous malformation was diagnosed by pathology and immunohistochemistry. CONCLUSIONS We report our experience with a rare case of LSPH caused by arteriovenous malformation. We suggest the importance of early differentiation of vascular malformations and non-invasive vascular testing in patients suspected of having LSPH.

BACKGROUND Insulin autoimmune syndrome (IAS) is a rare cause of spontaneous hyperinsulinemic hypoglycemia, characterized by high titers of insulin autoantibodies in the absence of prior insulin exposure. It is most frequently reported in Asian populations and is often associated with other autoimmune conditions. Reports in White patients remain uncommon. CASE REPORT We describe a 63-year-old White woman presenting with recurrent symptomatic hypoglycemia, with plasma glucose as low as 27 mg/dL. Episodes were accompanied by sweating and transient loss of consciousness. Several weeks before the first episode of hypoglycemia, she experienced a single episode of a pruritic rash, which resolved spontaneously. The patient had no prior exposure to insulin therapy or sulfhydryl-containing drugs. Laboratory evaluation revealed markedly elevated insulin concentrations (reaching 19 300 μU/mL), increased C-peptide levels, and insulin autoantibody titer of 99.9%. Abdominal MRI excluded insulinoma. Continuous flash glucose monitoring demonstrated frequent nocturnal and postprandial hypoglycemic episodes. Additional testing confirmed Hashimoto's thyroiditis and a benign thyroid nodule. Management included dietary modification with frequent small meals and carbohydrate restriction. Because these measures were insufficient, prednisolone was initiated, resulting in rapid improvement in glycemic stability. Corticosteroid dose was tapered over 4 months, and the patient remained euglycemic. CONCLUSIONS IAS should be considered in patients with unexplained hyperinsulinemic hypoglycemia to avoid unnecessary invasive evaluation for insulinoma. When dietary measures alone are inadequate, prednisolone therapy is effective. Given the frequent coexistence of IAS with other autoimmune disorders, systematic screening is advisable, and incidental thyroid findings in the setting of autoimmune thyroiditis warrant careful assessment to exclude malignancy.