1/4. Congenital sideroblastic anaemia with intrauterine symptoms and early lethal outcome.Sideroblastic anaemia is a rare disease, which most often presents in early childhood. A case of ringed sideroblastic anaemia with onset in early foetal life in a female infant, resulting in severe intrauterine symptoms, is reported. Six weeks after birth a bone marrow examination revealed a large amount of typical ringed sideroblasts, thus establishing the diagnosis. In spite of repeated blood transfusions, the haemoglobin content gradually decreased. The condition was refractory to pyridoxal phosphate treatment and continued to deteriorate with lethal outcome four months after birth.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. anemia as the sole presenting symptom of idiopathic pulmonary hemosiderosis: report of two cases.Idiopathic pulmonary hemosiderosis (IPH) is a rare disease in children and has an unknown etiology. It is characterized by the triad of hemoptysis, pulmonary infiltrates on chest radiograph (CXR) and iron deficiency anemia. We report two young children, aged 3 and 4 years, were admitted due to pale-looking appearance but without hemoptysis or other respiratory symptoms. pallor was the sole presenting feature in these 2 children with IPH and which was unusual. CXR obtained on admission led to the suspicion of pulmonary hemorrhage. The diagnosis of IPH was confirmed based on the presence of many hemosiderin-laden macrophages in bronchoalveolar lavage fluid obtained by flexible bronchoscopy. Steroid was initiated after the diagnosis of IPH was established; the both of them have been well and received regular follow-up in our outpatient department. IPH may not be diagnosed because of difficulty in diagnosis. anemia may be the only presenting feature of IPH, which was due to occult pulmonary hemorrhage. Initial treatment with corticosteroids has been successful in our patients for a period of 6 and 8 months of follow up respectively.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/4. Anesthetic management of a patient with beta-thalassemia intermedia undergoing splenectomy: a case report.A 37-year-old man with beta-thalassemia intermedia (betaTI), a rare disease caused by partial or complete deficiency of beta-globin chain synthesis, fell into a hemolytic crisis. Severe anemia persisted despite frequent transfusions. Therefore, he was scheduled for splenectomy to alleviate the anemia. The preoperative laboratory data showed marked anemia and liver dysfunction. echocardiography revealed hyperkinetic left ventricular motion and increased cardiac index (CI), indicating a compensatory hyperdynamic circulation induced by persistent, severe anemia. Our strategy during general anesthesia was to keep the hyperkinetic cardiovascular system steady. Hence, the hemodynamic parameters including the CI were measured using a Swan-Ganz catheter, and other physiological parameters were monitored perioperatively. Anesthesia was maintained with balanced anesthesia: isoflurane at low concentrations and fentanyl to avoid cardiovascular depression. Throughout the operation, vital signs were kept stable and the lactate/pyruvate ratio was unchanged, indicating that anaerobic metabolism did not increase. We report successful anesthetic management with attention to hemodynamic changes in a patient with betaTI.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery.epidermolysis bullosa dystrophica is a rare disease that affects the skin and mucous membranes. Manifest at birth, it is characterized by poor dentition, esophageal strictures, syndactyly, and severe chronic anemia. Our 12-year-old patient required extensive dental treatment which necessitated overcoming problems of anesthesia as well as developing a technique of management that provided maximum safety and a minimum of discomfort. Transmission electron microscopy of sections of the gingiva revealed possible degenerative collagen fibers and an interrupted basement membrance. Anchoring fibrils normally found in the connective tissue beneath the epithelium were absent.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |