[Protée syndrome associated with renal lithiasis and vesico-ureteral reflux].

Abstract

Background: Proteus syndrome is characterized by a range of various manifestations. The main ones are partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly. Urinary tract abnormalities are exceptional.

Case report: A 6 year-old boy was examined because he had presented numerous abnormalities from birth. His weight was 26 kg (+3 SD) and his height was 135 cm (+4 SD). The main abnormalities were ptosis, pterygium colli, nevi of the cervical area, plagiocephaly, frontal bossing, scoliosis, hemihypertrophy involving the skin, mucosa and bones, macrodactyly, varicose veins and lipomatosis. He underwent surgery at the age of 3 years for urinary lithiasis associated with an ureterovesical reflux on the left side, i.e. the side of hemihypertrophy.

Conclusion: This case suggests that Proteus syndrome may be an example of ectomesodermal dysembryoplasy but it requires confirmation by a report of at least one other case of obstruction of the ureteropelvic junction on the same side as hemihypertrophy.