[Bourneville's tuberous sclerosis associated with double uterus and vagina (didelphic uterus)]

We describe a case that fulfill the diagnostic criteria for the tuberous sclerosis (Bourneville disease), and presents a double uterus and double vagina (didelphic uterus). We have not found any reference ti this association in the literature (MEDLINE search from July 1986 to December 1996).

A 38-year-old woman with mental retardation and seizures who has been with carbamazepine since age 14. In 1979 a double vagina was diagnosed and a resection of a vaginal thin wall was performed. Laparoscopy showed a double uterus and multiple granulations of mesothelial proliferation in the Douglas sac. She has a remarkable behavior disorder with conjugal and familiar problems as well as a chronic renal insufficiency. The examination show a patient with a mental retardation, cutaneous hypopigmentation, facial adenomas sebaceums of Pringle, and ataxia, the rest of exploration was normal. The cranial CT show multiples calcified subependymal nodules. An abdominopelvic CT revealed several lesions in the liver parenchymal, and the pancreas head, compatible with hamartomas or lipomas, big kidneys with bilateral cysts and angiomyolipomas, and didelphic uterus. The cytogenetic study showed a normal karyotype (46,XX) and the molecular cytogenetic study (Fluorescence in situ hybridization, FISH) of chromosomes 2, 3, 4, 9, 11, 12 and 16 showed no chromosomal reangement.

Eventhough both Bourneville disease and didelphic uterus have individually been associated with chromosomal abnormalities, our cytogenetic studies show no chromosomal reangement or abnormality despite the coexistence of both disease in our patient. In the bibliographic search that we have performed we have not found any report of a case like the one we describe here.