Proteus Syndrome, a rare case with an unusual presentation: Case report.

INTRODUCTION

Proteus Syndrome is a very rare syndrome, where only 200 cases has been reported so far.

PRESENTATION OF CASE: 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.

DISCUSSION: 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.

CONCLUSION

PS should be suspected whenever we encounter patients with macrodactyly and this should alert us to the possibility of other congenital anomalies.