ACG Case Reports Journal最新文献

Immunoglobulin G4-related disease is a chronic, systemic immune-mediated condition. Esophageal involvement is considered rare and often poses major diagnostic and therapeutic challenges. We present an 81-year-old male patient with isolated esophageal immunoglobulin G4-related disease with extended clinical and endoscopic follow-up for 6 years, who had poor tolerance to systemic and topical steroids. The patient was successfully treated using a combination of intralesional steroids and serial balloon dilations spaced at long intervals. This approach, which has not been previously reported in this condition, resulted in prolonged clinical stability over an extended period.

The coexistence of celiac disease and giardiasis is an uncommon and potentially dangerous clinical scenario that presents diagnostic and therapeutic challenges. We describe a 48-year-old man with persistent diarrhea for 3 weeks and new onset bilateral upper and lower extremity weakness. Laboratory results revealed severe hypokalemia and positive celiac serologies. In addition, stool testing was positive for Giardia lamblia, which likely contributed to the severity of his symptoms and resulting electrolyte abnormalities. This unique presentation reinforces the recommendation to combine serologic, histologic, and infectious workup when evaluating severe diarrhea, even in cases of suspected celiac disease.

Basaloid squamous cell carcinoma (BSCC) of the rectum is an exceptionally rare malignancy, distinct from other more common gastrointestinal cancers. Although human papillomavirus infection is strongly associated with squamous cell carcinomas at other anogenital sites, its role in rectal BSCC remains unclear. We report a 66-year-old woman who presented with fatigue and intermittent hematochezia. Colonoscopy revealed a distal rectal mass, and biopsy confirmed poorly differentiated BSCC. Immunohistochemistry was negative for human papillomavirus. Molecular profiling demonstrated high tumor mutational burden and elevated PD-L1 expression. This case underscores the extreme rarity of rectal BSCC and the diagnostic and therapeutic challenges it poses.

Nonsteroidal anti-inflammatory drugs (NSAIDs) are among the most commonly used medications. Although common adverse effects such as gastrointestinal bleeding, ulcers, and kidney injury are widely known, small bowel diaphragm disease, an exceedingly rare complication of long-term NSAID use, remains underrecognized. We report an uncommon case of a 56-year-old patient on long-term high-dose NSAIDs who developed diaphragm disease involving the duodenum, a rarely reported location, manifesting as intestinal obstruction. This case highlights the potential for unusual anatomical involvement to mask diagnosis and underscores the importance of early consideration of this diagnosis in patients with chronic NSAID use and unexplained obstructive presentations.

This case reports a 35-year-old man with recurrent right lower quadrant (RLQ) pain initially suggestive of acute appendicitis who was diagnosed with functional abdominal pain syndrome after negative imaging and colonoscopy. Because of persistent pain, he underwent a diagnostic laparoscopy and appendectomy, where an appendiceal neuroma was diagnosed; this led to complete symptom resolution. This case highlights the importance of considering appendiceal neuroma in the differential for unexplained appendicitis-like RLQ pain, particularly when standard workups are inconclusive. The resolution of symptoms postsurgery suggests that exploratory surgery should be considered in patients with severe and persistent RLQ pain, even with negative imaging.

Abernethy malformation, a congenital extrahepatic portosystemic shunt, allows portal venous blood to bypass the liver and has been shown to predispose patients to hepatic tumors. We present a 29-year-old man with Type IB Abernethy malformation diagnosed in infancy who developed hepatocellular carcinoma in a noncirrhotic liver. Surgical resection, the standard curative therapy, was not feasible due to complex vascular anatomy, and he was treated with stereotactic body radiation therapy. Post-treatment imaging demonstrated sustained improvement. This case highlights the malignant potential of congenital portosystemic shunts and the importance of long-term surveillance.

Patients with inflammatory bowel disease (IBD) and human immunodeficiency virus (HIV) present unique challenges due to overlapping immune dysregulation and heightened infection risk. Although immunosuppressive therapy is central to management of moderate to severe IBD, concurrent HIV infection complicates both diagnostic evaluation and therapeutic decisions. Outcomes in this population remain poorly defined, with limited evidence available to guide management. This case series evaluates 3 challenging cases that demonstrates the diagnostic uncertainty and therapeutic complexity encountered when IBD and HIV coexist, underscoring the need for individualized, multidisciplinary care and further investigation to optimize outcomes in this vulnerable population.

BRCA mutations are well established in breast and ovarian cancers and increasingly recognized in colorectal cancer (CRC), particularly BRCA1. Dual BRCA1/2 pathogenic variants in CRC remain exceptionally rare. We report a case of early-onset CRC in a young male harboring pathogenic variants in BRCA1, BRCA2, and POLE, with no personal or familial cancer history. This mutational triad suggests convergence of homologous recombination deficiency and impaired DNA proofreading, resulting in a hypermutated phenotype. The case may represent a novel molecular CRC subtype and underscores the importance of broad-panel germline testing in young patients, with implications for poly (ADP‑ribose) polymerase and immune checkpoint inhibitor therapy.