1/2. Shwachman-diamond syndrome in a Mexican family.Shwachman-diamond syndrome (SDS) is an inherited condition with multisystemic abnormalities including pancreatic exocrine dysfunction, neutropenia, short stature, and skeletal abnormalities. In this report, we describe the case of a 14-year-old female with a history of neutropenia, pancreatic exocrine insufficiency and pancreatic endocrine sufficiency, pancreatic lipomatosis (10), and the development of myeloid leukemia. Postmortem examination revealed a high probability of SDS. We also describe the clinical findings in the patient's six siblings, suggesting this as a familial form of SDS. Because the gene(s) responsible for this syndrome have not yet been identified, genetic confirmation is not yet possible. This is the first report in the literature of a Mexican family with probable SDS.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
2/2. celiac disease or dermatitis herpetiformis in three patients with porphyria.celiac disease was diagnosed in one patient with variegate porphyria, and dermatitis herpetiformis in two patients, one with acute intermittent porphyria and the other with erythropoietic protoporphyria. The probability that celiac disease or dermatitis herpetiformis should occur in three patients with porphyria in finland is less than 0.2%. Neither a consistent HLA pattern nor any other explanation can be offered for the association between these diseases.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |