1/136. 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) |
2/136. 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 = 0.4keywords = giant (Clic here for more details about this article) |
3/136. 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 = 0.6keywords = giant (Clic here for more details about this article) |
4/136. 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) |
5/136. 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) |
6/136. 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) |
7/136. Successful transcutaneous arterial embolization of a giant hemangioma associated with high-output cardiac failure and kasabach-merritt syndrome in a neonate: a case report.We describe the case of a patient with a neonatal giant cutaneous hemangioma with high-output cardiac failure and kasabach-merritt syndrome and successfully treated with transcutaneous arterial embolization aimed at controlling severe congestive heart failure and consumption coagulopathy. A patient was admitted to the neonatal care unit on the first day of age because of a large hemangioma on his right lateral chest wall and respiratory distress, associated with cardiac failure resulting from arteriovenous shunting. On the second day of age the platelet count decreased to 5.7 x 10(4)/microliter and fibrinogen level was 85 mg/dl. The values of prothrombin time and activated partial thromboplastin time were prolonged. Intravenous predonisone therapy was started immediately, but bleeding tendency was getting worse and the evidence of congestive heart failure persisted. On the third day the patient then underwent embolization of feeding arteries with microcoils. The cardiac failure and thrombocytopenic coagulopathy had improved significantly without complications. We conclude that transcutaneous arterial embolization is an effective and safe treatment in this neonate and should be considered for the treatment of control high-output cardiac failure and coagulopathy in infants with hemangioma and kasabach-merritt syndrome.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
8/136. Sebastian platelet syndrome: two Japanese families originally diagnosed with May-Hegglin anomaly.Ultrastructural studies of granulocytes were performed on two unrelated patients with hereditary thrombocytopenia, giant platelets, and inclusion bodies in granulocytes. Each patient had been diagnosed with May-Hegglin anomaly. In both cases, inclusion bodies in granulocytes consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum. Additional clinical features suggesting Alport syndrome were lacking in these propositi and their family members. These observations imply that the patients were affected not with May-Hegglin anomaly but with Sebastian platelet syndrome. They would thus represent the seventh and eighth families known to carry this hereditary disease.- - - - - - - - - - ranking = 0.2keywords = giant (Clic here for more details about this article) |
9/136. kasabach-merritt syndrome with terminal gram negative infection.A case of giant haemangioma with disseminated intravascular coagulation (Kasabach-Merritt) syndrome) is presented. Death occurred despite therapy and postmortem evidence of clinically unrecognised gram negative bacteraemia was seen.- - - - - - - - - - ranking = 0.2keywords = giant (Clic here for more details about this article) |
10/136. Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome).Four patients are described with stone-hard indurations of the skin and subcutaneous tissue, predominantly on the buttocks and thighs, in the areas of the thickest fascia lata and glutealis. All cases were sporadic, started in early infancy, were only slightly or not progressive, and showed no visceral involvement or immunologic abnormalities. In all, the hallmark of the disease was strikingly enlarged fascia. In one patient, typical features developed progressively for 9 years, and in two patients the changes remained abortive, limited to some areas, and not symmetrical. The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is of practical importance, since no therapy is required. However, intensive rehabilitation should start in early infancy and continue throughout life. The genetic defect of molecular organization of collagen in the fascia results in formation of giant amianthoid-like collagen fibrils.- - - - - - - - - - ranking = 0.2keywords = giant (Clic here for more details about this article) |
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