Proteus Syndrome, a rare case with an unusual presentation: Case report.
Intestinal lipomatoses
Macrodactyly
Proteus Syndrome
Small bowel volvulus
Journal
International journal of surgery case reports
ISSN: 2210-2612
Titre abrégé: Int J Surg Case Rep
Pays: Netherlands
ID NLM: 101529872
Informations de publication
Date de publication:
2020
2020
Historique:
received:
04
03
2020
revised:
09
06
2020
accepted:
09
06
2020
pubmed:
22
6
2020
medline:
22
6
2020
entrez:
22
6
2020
Statut:
ppublish
Résumé
Proteus Syndrome is a very rare syndrome, where only 200 cases has been reported so far. We were presented with a 45 year male with features of chronic Intestinal Obstruction. On Examination he had a giant right middle finger (Fig. 1), giant left forearm, with amputated left hand, and massive abdominal distension with tenderness in upper abdomen. Proteus Syndrome (PS) is a very rare syndrome, diagnosis of which is based on Biescker's criteria, either one finding from Criteria A, or two from B, or three from C. Confirmation of the disease is by finding genetic variation in the AKT1 gene. In addition to the presence to some of the criteria in our patient, he also had numerous intestinal lipomatosis, involving almost most of his small intestine. This in addition to high riding caecum and a narrow long mesentery which contributed to the development of small Bowel volvulus. PS should be suspected whenever we encounter patients with macrodactyly and this should alert us to the possibility of other congenital anomalies.
Identifiants
pubmed: 32563816
pii: S2210-2612(20)30455-7
doi: 10.1016/j.ijscr.2020.06.052
pmc: PMC7306542
pii:
doi:
Types de publication
Case Reports
Langues
eng
Pagination
339-342Informations de copyright
Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.
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