deamino-arginine-vasopressin and Neurofibromatosis-1

A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. A subsequent water deprivation test confirmed central diabetes insipidus, which responded to treatment with desmopressin. MRI of the brain showed pituitary enlargement, which raised the possibility of an underlying pituitary adenoma or, alternatively, lymphocytic hypophysitis. Both conditions have rarely been described in neurofibromatosis.

Topics: Antidiuretic Agents; Deamino Arginine Vasopressin; Diabetes Insipidus, Neurogenic; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Neurofibromatosis 1; Neuroimaging; Polydipsia; Polyuria; Treatment Outcome; Water

A patient with the genetic condition neurofibromatosis type I and no known coagulopathy undergoing cesarean delivery, had diffuse uterine and surgical site bleeding that was not correctable by oxytocin, methylergonovine and PGF2 alpha. Despite good uterine tone, hemorrhage continued from the uterus and the surrounding tissues, persisting even after surgical ligation of the uterine arteries. With no change in her condition, which was behaving clinically as a coagulopathy, an infusion of desmopressin acetate (DDAVP) was begun. The patient's bleeding promptly resolved shortly after infusion of this agent. A review of relevant literature suggests that platelet reactivity of patients with neurofibromatosis type 1 is attenuated in some in vitro conditions. Thus, there may be some theoretical basis for using DDAVP in patients with neurofibromatosis type 1 who have bleeding problems with no other known source, such as in the case presented here.

Topics: Adult; Anticoagulants; Blood Coagulation Disorders; Cesarean Section; Deamino Arginine Vasopressin; Female; Hematocrit; Humans; Infant, Newborn; Infusions, Intravenous; Intraoperative Complications; Neurofibromatosis 1; Obstetric Labor Complications; Pregnancy; Uterine Hemorrhage