1/343. McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.Molecular genetics recently uncovered the mystery of the protean picture of McCune-Albright syndrome by identification of the somatic gain of function mutations in the GNAS1 gene. Here we present an adult patient with fibrous dysplasia and an endocrinopathy resulting in unusual giant height. The clinical diagnosis in the patient could be confirmed by molecular investigations in tissues involved in the process of fibrous dysplasia.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/343. Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.A fourth kindred displaying the triad of hereditary nephritis, deafness and thrombocytopenia with giant platelets is described. Renal involvement, a common cause of death amongst afflicted subjects, appears to have a better prognosis in the affected members of this family. Although the electron microscopic appearance of the megakaryocytes in the present case appears similar to that in previously reported cases, we suggest that the "giant" platelets may result from a degenerative process of megakaryocytes leading to nuclear regression and cytoplasmic fragmentation, rather than the usual blebbing process.- - - - - - - - - - ranking = 987.01423748671keywords = giant platelet, platelet, giant (Clic here for more details about this article) |
3/343. Sebastian syndrome: case report and review of the literature.Macrothrombocytopenias (MTCP) are a heterogeneous group of disorders associated with thrombocytopenia and giant platelets, and may include other clinical or laboratory findings such as hereditary nephritis, sensorineural deafness, leukocyte inclusions, and cataracts. patients with MTCP may have mild to moderate bleeding symptoms or be completely asymptomatic. The most recently described MTCP is the Sebastian syndrome (SS), which consists of thrombocytopenia with giant platelets and leukocyte inclusions. Only three previous reports about this syndrome have been published. Herein, we report the first African-American family with SS. The propositus is a 4-week-old male born to a mother carrying the diagnosis of chronic idiopathic thrombocytopenia purpura (ITP). His 4-year-old brother also has thrombocytopenia. There is no history of bleeding symptoms in any of the family members. The diagnosis was established by demonstrating thrombocytopenia with giant platelets and leukocyte inclusions on both peripheral smear and by electron microscopy. This report illustrates the importance of obtaining a family history when evaluating thrombocytopenia with special emphasis on a history of thrombocytopenia, renal disease, deafness, and cataracts. It is important to differentiate between MTCP and chronic ITP to avoid the unnecessary diagnostic studies, and, more critically, unneeded and potentially harmful therapy.- - - - - - - - - - ranking = 2928.63318654keywords = giant platelet, platelet, giant (Clic here for more details about this article) |
4/343. Anaemia, thrombocytopenia and coagulopathy due to occult diffuse infantile haemangiomatosis of spleen and pancreas.Diffuse infantile haemangiomatosis of the spleen is a very rare lesion. Large haemangiomas may cause trapping of platelets and coagulation disorders known as Kasabach-Merrit syndrome. We here report the case of an infant with splenic and pancreatic haemangiomatosis presenting with life-threatening thrombocytopenia, anaemia and intravascular coagulation. diagnosis was hampered by reactive erythroblastosis and non-conclusive radiological findings. While treatment with corticosteroids was ineffective, administration of antithrombin iii improved coagulation parameters. After splenectomy the child recovered promptly and has remained free of disease for 3 years to date. CONCLUSION: Occult visceral haemangiomatosis without visible cutaneous haemangiomas should be included in the differential diagnosis of thrombocytopenia, anaemia and consumption coagulopathy. antithrombin iii treatment may be considered to overcome bleeding problems in patients with Kasabach-Merrit syndrome.- - - - - - - - - - ranking = 10.603175306689keywords = platelet (Clic here for more details about this article) |
5/343. Pathologic causes of the superior oblique click syndrome.PURPOSE: To describe the clinical features in two patients with superior oblique click syndrome and the pathologic causes of their symptoms. DESIGN: Two observational case reports. PARTICIPANTS: Two patients. methods: The clinical histories, results of physical examinations, treatment, and pathologic findings in two patients with superior oblique click syndrome are reviewed and analyzed with reference to the literature. MAIN OUTCOME MEASURES: Relief of symptoms. RESULTS: Both patients were operated on; one was found to have a schwannoma and the other a giant cell tumor of tendon sheath as causes of their symptoms. Symptoms were relieved by removal of the lesions and have not recurred. CONCLUSION: Definite pathologic lesions may cause the superior oblique click syndrome.- - - - - - - - - - ranking = 0.2keywords = giant (Clic here for more details about this article) |
6/343. Successful unrelated umbilical cord blood transplantation in a child with Omenn's syndrome.Omenn's syndrome is a variant of combined immunodeficiency disease (CID). Like other CID forms, it causes death unless the patient receives a bone marrow transplant (BMT). Previous reports have shown that BMTs from unrelated donors in Omenn's syndrome have very poor results, with a high rate of infections during transplantation and graft rejection, when compared with transplants from related donors or patients with other CID. This study discusses the case of a 19-month-old child with Omenn's syndrome, who received an unrelated cord blood stem cell transplant (CBT). Donor and recipient had 1 HLA-Ag mismatched on HLA-B. Symptomatology improved early after CBT. The child achieved leukocytes and platelet engraftment and was discharged on day 34. His follow-up has been uneventful and at this time, 27 months after CBT, immune functions have been recovered.- - - - - - - - - - ranking = 10.603175306689keywords = platelet (Clic here for more details about this article) |
7/343. Progressive confluent circumpapillary multiple evanescent white-dot syndrome.PURPOSE: To describe a morphologic variant of the multiple evanescent white-dot syndrome that can mimic other conditions. methods: We examined three patients with severe cases of unilateral multiple evanescent white-dot syndrome characterized by an atypical progressive circumpapillary discoloration of the fundus. RESULTS: The confluent circumpapillary lesion progressed toward or beyond the equator of the fundus, raising initial concern of a viral retinitis. However, pinpoint dots at the leading edge evolved into the typical wreath-like spots of multiple evanescent white-dot syndrome, which then coalesced into the advancing edge of a geographic retinitis or retinal pigment epitheliitis, before spontaneous resolution. CONCLUSION: Progressive geographic circumpapillary discoloration, appearing as a giant white spot, occurs rarely in severe cases of multiple evanescent white-dot syndrome. The distinctive appearance may suggest a disorder other than multiple evanescent white-dot syndrome, which can make initial diagnosis more difficult and lead to unnecessary or inappropriate testing and treatment.- - - - - - - - - - ranking = 0.2keywords = giant (Clic here for more details about this article) |
8/343. pregnancy in bone marrow failure syndromes: diamond-Blackfan anaemia and Shwachman-diamond syndrome.pregnancy in bone marrow failure syndromes has risk to mother and fetus. There are fewer than 30 reports of cases with diamond-Blackfan anaemia (DBA), and none with Shwachman-diamond syndrome (SD). We report two DBA and one SD cases. One DBA mother received transfusions intra-partum, and the other only post-partum. Both required caesarean sections (C-sections) for failure of labour to progress and severe pre-eclampsia respectively. Both subsequently resumed pre-pregnancy steroid-induced control of anaemia. approximately 40% of DBA pregnancies required maternal transfusions; 25% delivered by C-section. The SD patient also had Ehlers-Danlos (ED) syndrome and urticaria pigmentosa (UP). Her blood counts were adequate until week 38, when the platelet count dropped and a C-section was performed. pregnancy management in marrow failure disorders requires obstetricians with expertise in high-risk pregnancies, and haematologists with experience with marrow failure syndromes.- - - - - - - - - - ranking = 10.603175306689keywords = platelet (Clic here for more details about this article) |
9/343. Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome.We report on a patient with ocular-ectodermal syndrome who was previously described in 1993 [Am J Med Genet (1993) 45:764-766]. This boy has now developed additional manifestations, including giant cell granulomas and non-ossifying fibromas. This adds to the list of phenotypic manifestations of this condition.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
10/343. Acute thrombotic-ischemic coronary syndromes: the usefulness of TEC.Transluminal extraction catheter (TEC) is a percutaneous device that performs simultaneous thrombus aspiration and plaque excision. Clinical indications for its application are acute myocardial infarction, unstable angina, and stable angina caused by atherosclerotic, thrombotic lesions located within native coronary arteries and degenerated saphenous vein grafts. The device is useful in management of ischemic patients with contraindications to either pharmacologic thrombolytics or platelet GPIIb/IIIa receptor inhibitors, and can also effectively be used in combination with these agents. A successful TEC procedure requires careful patient selection, strict adherence to recommended indications, optimal equipment selection, familiarity with mechanical components of the device, full understanding of safe and efficacious techniques for deployment and activation, as well as recognition of unique associated angiographic manifestations such as the "empty-pouch phenomenon." As with other debulking devices, the incidence of restenosis post-TEC appears to be directly related to acute luminal gain at the time of procedure and therefore requires the need for adjunct stenting. This communication describes and illustrates various clinical, technical, and angiographic aspects of TEC procedure in patients with acute ischemic-thrombotic coronary syndromes. Cathet. Cardiovasc. Intervent. 48:406-420, 1999.- - - - - - - - - - ranking = 10.603175306689keywords = platelet (Clic here for more details about this article) |
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