Original scientific paper
Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine b-synthetase Gene Mutations
Diana Muačević-Katanec
Tihomir Kekez
Ksenija Fumić
Ivo Barić
Marijan Merkler
Jasminka Jakić-Razumović
Zeljko Krznarić
Renata Zadro
Davor Katanec
Željko Reiner
Abstract
The clinical picture of classical homocystinuria is diverse. This is the first report of an adult homocystinuric patient
with non-traumatic spontaneous small bowel perforation. A 47-year old man presented with abdominal rebound tenderness,
hypotension and tachycardia, anemia, and elevated markers of inflammation. Other routine laboratory tests were
normal. Abdominal x-ray showed no free air. An emergency laparotomy revealed jejunal perforation in the left upper quadrant.
Histologic specimen showed full-thickness nonspecific inflammation of the intestinal wall with granulocytic infiltration,
hemorrhage and necrosis. Tuberculosis, actinomycosis and typhus were histologically and clinically excluded. After
excluding all known possible causes of perforation, we presumed a causative relationship between homocystinuria and
small bowel perforation. It could be hypothesized that connective tissue weakness in homocystinuria is a result of homocysteine
interference with recombinant human fibrillin-1 fragments or cross-linking of collagen through permanent degradation
of disulfide bridges and lysine amino acid residues in proteins. DNA analysis showed three detectable mutations in the
cystathionine beta-synthetase gene, 1278T:c.833T>C, and two new mutations, V372G:c.1133T>G, and D520G:c.1558A>G
in the alternatively spliced exon 15.
Keywords
cystathionine beta-synthetase deficiency; spontaneous small bowel perforation
Hrčak ID:
64781
URI
Publication date:
7.3.2011.
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