engleski

Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine beta-synthetase Gene Mutations

The clinical picture of classical homocystinuira is diverse. This is th first report of an adult homocystinuric patient with non-traumatic spontaneous small bowel perforation. A 47-year old man presented with abdominal rebound tenderness, hypertension and tachycardia, anemaia, and elevated markers of inflammation.

cystathionine beta-synthetase deficiency; spontaneous small bowel perforation

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