Perforation of the colon in an adolescent girl.
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.
Kinnane
J
J
Division of Emergency Medicine, Children's Hospital, Boston, Massachusetts, USA.
Priebe
C
C
Caty
M
M
Kuppermann
N
N
D000006:Abdomen, Acute / Q000209:etiology*; D000293:Adolescent; D000328:Adult; D012809:Colon, Sigmoid; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007416:Intestinal Perforation / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D008297:Male; D008487:Medical History Taking; D010538:Peritonitis / Q000209:etiology