Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0740577 (acute abdominal pain)
 1,982 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6.5-year old boy with already known multiple aneurysms of all major arteries presented with acute abdominal pain. As demonstrated by ultrasound a big aneurysm of the left renal artery thrombosed in the course of three days. As a result, the left kidney developed severe ischaemia. Although computed tomography and scintigraphy were applied, a plan for a definitive therapeutic procedure could be established only by arterial angiography. Both Ehlers-Danlos' syndrome and Kawasaki's syndrome were excluded. There were no facts suggesting an infective aetiology. Four other cases with multiple aneurysms of unknown aetiology in childhood have so far been described in literature.
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PMID:[Multiple aneurysms of unknown etiology in childhood--complications and diagnostic possibilities]. 218 3

We report a case of a 13-year-old girl who presented with acute abdominal pain secondary to a sigmoid colon perforation. History, physical examination, and laboratory and radiographic studies were all suggestive, though not diagnostic, of an abdominal catastrophe. Her father died at the age of 30 from complications of bowel perforations and a vascular aneurysm. The unusual operative findings in our patient, together with her father's medical history, lead to the underlying diagnosis of Ehlers-Danlos syndrome. Knowledge of this family history at the time of presentation could have aided in diagnosis. Clinical manifestations and etiology of Ehlers-Danlos syndrome are discussed.
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PMID:Perforation of the colon in an adolescent girl. 853 69

A 5-year-old girl with Ehlers-Danlos syndrome presented with acute abdominal pain and anuria caused by a spontaneous perforation of bladder diverticula. Conservative treatment was successful.
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PMID:Spontaneous rupture of bladder diverticula in a girl with Ehlers-Danlos syndrome. 1021 61

The vascular type of Ehlers-Danlos syndrome, type IV, is associated with severe complications, including arterial rupture and visceral perforation. However, to our knowledge, there has been only one previous report of splenic rupture caused by a spontaneous hemorrhage in type IV Ehlers-Danlos syndrome. We report another case of this uncommon complication, occurring in a 35-year-old woman who presented after the sudden onset of acute abdominal pain. Patients should be stabilized quickly in the intensive care unit and the most timesaving surgical techniques used. Moreover, tissues must be handled with great care intraoperatively in view of their extreme fragility. Despite prompt and appropriate treatment, the prognosis is often dismal.
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PMID:Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: report of a case. 1913 69

Unlike vascular Ehlers-Danlos syndrome (EDS), classic EDS is rarely associated with vascular manifestation. We report the case of a 39-year-old man who presented with acute abdominal pain. At the time of presentation, the patient was in hypovolemic shock, and computed tomography angiogram demonstrated common iliac artery dissection with rupture. He underwent an attempted endovascular repair that was converted to an open repair of a ruptured right common iliac artery dissection. Subsequent genetic testing revealed a substitution of arginine for cysteine in type I collagen, COL1A1 exon 14 c.934C>T mutation, consistent with a rare variant of classic EDS.
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PMID:Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. 2559 51