Perioperative management of a patient with glanzmann's thrombasthenia for mitral valve repair under cardiopulmonary bypass.

A 30-year-old male patient presented with Glanzmann's thrombasthenia and mitral valve prolapse. He was in acute decompensated congestive heart failure due to severe mitral and tricuspid regurgitation. After his cardiac failure had been stabilized, the patient was subjected to mitral and tricuspid valve repair. His transfusion requirements were guided by thrombelastography and his bleeding disorder was managed by infusing single donor plasmapheresed platelet transfusions in the perioperative period. The patient underwent surgery uneventfully.

Formation of obstructing blood clot in the ureter in a patient with Glanzmann's thrombasthenia.

Glanzman thrombasthenia is a rare hematologic disorder characterized by qualitative thrombocyte abnormality. Patients present with episodic mucocutaneous bleeding. Thrombosis is a paradox phenomenon observed in patients with Glanzman thrombasthenia and generally considered as a treatment complication. We present a 16-year-old girl referred for severe flank pain beginning after treatment of hematuria due to Glanzman thrombasthenia. The patient underwent endoscopy for further diagnosis and treatment because of the failure of radiologic evaluation. Although the resolution of the large clots was obtained with streptokinase instillation via the ureteral catheter, clot was mobilized with gentle insertion of ureteral catheter in the present case.

Hemosuccus pancreaticus in Glanzmann thrombasthenia: implication of scintigraphy in gastrointestinal bleeding (GIB) of unknown origin.

A 33-year-old man with Glanzmann thrombasthenia, enduring retractable melena, and with an active upper gastrointestinal bleeding (GIB) of unknown origin lasting intermittently for 6 months, was admitted. Abdominal ultrasound and computed tomography were not diagnostic. The patient underwent upper gastrointestinal endoscopy twice, both of which showed blood issuing forth from ampulla of vater and possible diagnoses of bleeding from papilla/hematobilia or hemosuccus pancreaticus were suspected. Digital subtraction angiography of celiac/superior mesenteric arteries was unremarkable. In GIB scintigraphy, a focus of activity appeared in the epigastric area early in the study (arrow), intensity of which increased gradually. Exploratory laparatomy confirmed the diagnosis of hemosuccus pancreaticus. Although the patient was doing well for few weeks after the surgery, he died 3 months later after an acute episode of severe GIB.

Osteopetrosis and Glanzmann's thrombasthenia in a child.

Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial. Osteoblast-osteoclast interaction defects, incorrect differentiation of osteoclasts, abnormal contact between osteoclast and extracellular matrix, and abolished signaling are included in this process. Recently, mutations in the gene of the vacuolar proton pump have been described in some cases of recessive osteopetrosis. Glanzmann's thrombasthenia (GT) is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb) beta3. Several mutations on either integrin alpha(IIb) [glycoprotein (GP) IIb] or integrin beta(3) (GP IIIa) were reported in GT. We report on a patient with autosomal recessive osteopetrosis concurrently diagnosed with variant type Glanzmann's thrombasthenia. To our knowledge, our patient was the first case reported in the literature in which osteopetrosis and Glanzmann's thrombasthenia were diagnosed together.

Bilateral massive choroidal hemorrhage secondary to Glanzmann's syndrome.

Characteristics of intraocular bleeding and its management in association with blood dyscrasias are discussed. We present a patient with massive bilateral choroidal hemorrhage secondary to Glanzmann's syndrome. Magnetic resonance imaging and ultrasonographic findings were ordered. During the clinical course, bilateral intravitreal hemorrhage and tractional retinal detachment occurred. Left pars plana vitrectomy was performed under general anaesthesia. The procedure was unsuccessful because of intraoperative uncontrolled bleeding.