ANNA BRYAN, M.D.; R. F. KNAUFT, M.D.; W. A. BURNS, M.D.
Fabry's disease is a sex-linked disorder of glycolipid metabolism biochemically characterized by a deficiency or lack of the enzyme ceramide galactaryl hydralase (1). It is clinically manifested by skin lesions, often with evidence of renal, pulmonary, central nervous system, cardiovascular, ocular, or gastrointestinal dysfunction (2-3). Gastrointestinal symptoms, especially intermittent nonbloody diarrhea, frequently accompanied by crampy abdominal pain, are often associated with loss of haustral markings as seen on barium enema examinations (4). A recent report by Rowe, Gilliam, and Warthin (5) emphasized that these findings may be more common than previously recognized. We report the first case, to our knowledge,
BRYAN A, KNAUFT RF, BURNS WA. Small Bowel Perforation in Fabry's Disease. Ann Intern Med. ;86:315–316. doi: 10.7326/0003-4819-86-3-315
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Published: Ann Intern Med. 1977;86(3):315-316.
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