Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.

ABSTRACT:

Introduction

Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age.

Case presentation

Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of gestation and presented with severe intrauterine growth restriction. She had Bloom syndrome and was diagnosed with a unilateral Wilms' tumor at the age of 3.5 years. She responded well to oncological treatment and has remained disease-free for the last 17 years. Case 2 was a 2-year-old Brazilian girl born to non-Jewish first-degree cousins. Her gestation was marked by intrauterine growth restriction. Sh

SUBMITTER: Moreira MB 

PROVIDER: S-EPMC3897898 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature