C1-inhibitor deficiency is a rare disease which incorporates acute self-limiting intermittent swelling of the subcutaneous tissue and mucous membranes. Attacks most frequently affect the face and/or the upper airway. Isolated angioedema of the small bowel is an uncommon manifestation and often accompanied by diagnostic delay. In the present case, abdominal pain turned out to be the first and only utterance of an acquired C1-inhibitor deficiency, secondary to a splenic marginal zone lymphoma. Imaging showed wall thickening of the small intestine, ascites and splenomegaly. The abdominal pain and intestinal wall thickening with surrounding ascites on imaging spontaneously resolved each episode within 2-3 days. Gastrointestinal manifestations of angioedema may mimic an acute abdomen, and subsequently one-third of these patients undergo unnecessary surgery prior to a definite diagnosis. This emphasises the importance of considering the diagnosis in case of an 'extraordinary colic'.
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http://dx.doi.org/10.1136/bcr-2022-250710 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
An Pediatr (Engl Ed)
January 2025
Unidad de Cuidados Intensivos Pediátricos, Servicio de Pediatría, Hospital Germans Trias i Pujol, Badalona, Spain. Electronic address:
BMJ Case Rep
January 2025
Surgical Oncology, Guthrie Robert Packer Hospital, Sayre, Pennsylvania, USA.
A splenic inflammatory pseudotumour (IPT) is a rare condition in which inflammatory cells and non-cancerous specialised cells known as myofibroblasts abnormally replicate in the spleen. Patients with IPT may experience symptoms like abdominal pain, fever and weight loss, making it difficult to distinguish from processes like cancer. As a result, diagnosing IPT often requires imaging studies and microscopic examination.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Surgery, Hospital de Vila Franca de Xira, Vila Franca de Xira, Lisboa, Portugal.
Non-operative management is the standard of care for blunt spleen trauma in stable patients in the absence of other abdominal injuries. This is a case report of a male patient in his 60s who presented to the emergency room with abdominal pain 2 days after sustaining blunt abdominal trauma. The patient was haemodynamically stable, and CT scan revealed a severe spleen injury.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Department of Surgery, School of Medicine, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania; University of California, Center for Global Surgery, Sacramento, CA, USA.
Introduction And Importance: Gallbladder cancer (GBC) is a rare but aggressive malignancy, accounting for most biliary tract cancers. It typically presents at an advanced stage, leading to a poor prognosis, with a mean survival of six months and a five-year survival rate of 17.6 %.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!