Splenic arteries and veins in pediatric sickle cell disease.

The goal of this study was to verify the existence and prevalence of large vessel lesions outside the central nervous system in young patients with sickle cell disease. Thus, 17 spleens resected because of episodes of sequestration or infarction and 41 controls were studied. Anomalies of arteries and veins were detected in all spleens from sickle cell disease patients, but no definite correlation with age, sex, type of sickle hemoglobin, or frequency of sequestration episodes could be established.

Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia.

We have identified a constitutional inversion in chromosome 5 associated with familial adenomatous polyposis in three generations of a Mexican family. Two of three siblings developed hepatic neoplasia in infancy. The gene truncation assay failed to demonstrate a truncated protein in the segment harboring the adenomatous polyposis coli (APC) genes.