Life-threatening gastrointestinal haemorrhage in Von Recklinghausen's disease.
Neurofibromatosis Type I (NF-1), also known as Von Recklinghausen's disease, is a common disorder, but gastrointestinal manifestations are rare and can be associated with severe complications and malignancy. We describe a case of multiple intestinal tumours, which presented as major per-rectal bleeding and was diagnosed by laparotomy. Presenting symptoms of this condition are usually non-specific, but the risk of malignancy and perforation should allow for a high index of suspicion in patients with NF-1 presenting with gastrointestinal symptoms. We present this case as a reminder that blood loss from the bowel in Von Recklinghausen's disease may be life-threatening, requiring immediate surgery to control haemorrhage.
Hanly
A M
AM
Department of Surgery, Waterford Regional Hospital, Waterford, Ireland.
Coffey
J C
JC
Breathnach
O
O
Calvert
R
R
Murphy
M N
MN
Cross
K S
KS
D000328:Adult; D004385:Duodenostomy; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D046152:Gastrointestinal Stromal Tumors / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007078:Ileal Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D007081:Ileostomy; D007580:Jejunal Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D009378:Neoplasms, Multiple Primary; D009456:Neurofibromatosis 1 / Q000150:complications*; D010386:Pelvic Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D011859:Radiography