Severe pretreatment cerebral edema in newly diagnosed type 1 diabetes.

Introduction: Cerebral edema (CE) is a rare and dangerous complication of diabetic ketoacidosis. In typical cases, it may develop during several hours after the beginning of ketoacidosis therapy. Nevertheless, CE sometimes occurs before the start of any therapy - as for the patient in this report here.

Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.

We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage.