Rare Diseases Symptoms Automatic Extraction

Intestinal bleeding from arteriovenous malformations of the small bowel in a patient with Cowden syndrome: report of a case.

[cowden syndrome]

This report presents the case of a patient with Cowden syndrome who had arteriovenous malformations (AVMs) at the jejunum and the ileum and experienced intestinal bleeding. A 54-year-old Japanese male presented with general fatigue and melena. Endoscopic examinations showed gastrointestinal polyposis from the esophagus to the rectum. However, the site of bleeding was not identified. There were some papules on his face and neck. He also had macrocephaly and had multiple papillomas along the gum-line. These findings indicated a clinical diagnosis of Cowden syndrome. Enhanced computed tomography (CT) and angiography analyses indicated the presence of AVMs at the jejunum and the ileum. He was treated with partial resection of the jejunum and ileum including these two AVMs. This was a rare case of two AVMs involving the small bowel in a patient with Cowden syndrome. Enhanced CT was very useful and convenient for the detection of gastrointestinal AVMs in this case.

Diseases presenting "fatigue" symptom

  • benign recurrent intrahepatic cholestasis
  • cholangiocarcinoma
  • congenital adrenal hyperplasia
  • cowden syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dracunculiasis
  • erdheim-chester disease
  • esophageal carcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kabuki syndrome
  • lymphangioleiomyomatosis
  • neuralgic amyotrophy
  • pleomorphic liposarcoma
  • systemic capillary leak syndrome
  • triple a syndrome
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

This symptom has already been validated