1/5. leopard syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.leopard syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism. The synonymous name progressive cardiomyopathic lentiginosis better indicates the morbid cardiac features that patients with the syndrome have. A patient with leopard syndrome is presented. He had recurrent upper extremity aneurysms requiring multiple operations and finally PTFE reinforced venous grafts to prevent further aneurysmal degeneration. He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of leopard syndrome was confirmed on a genetic basis. review of the literature reveals no previous reports of severe aneurysmal disease in these patients.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/5. Anaesthetic implications of leopard syndrome.leopard syndrome is a neuroectodermal disorder presumed to result from an abnormality in neural crest cells. The acronym 'LEOPARD' is derived from the clinical features which include multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and deafness. Given the multisystem nature of the disease process, several issues may affect the perioperative care of these patients. Of primary importance are associated conditions of the cardiovascular system including congenital heart disease, conduction disturbances, and progressive hypertrophic obstructive cardiomyopathy. The authors present a 4-year old boy who presented for anaesthetic care for repair of a ventricular septal defect and pulmonary valvotomy for congenital pulmonary stenosis. The potential perioperative implications of leopard syndrome are discussed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/5. leopard syndrome and hypertrophic obstructive cardiomyopathy: a case report.The leopard syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities. Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease. In this study, we present a nine-year-old boy with leopard syndrome and hypertrophic obstructive cardiomyopathy.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/5. genetic heterogeneity in leopard syndrome: two families with no mutations in PTPN11.leopard syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular defects, and facial anomalies, some of which are shared with noonan syndrome (NS). Recent reports have shown that leopard syndrome can be caused by mutations in PTPN11, the gene in which mutations can produce NS. Here we report the findings of mutation screening and linkage analysis of PTPN11 in three families with leopard syndrome. We identified a novel mutation in one family. The mutation (1529A>C) substitutes proline for glutamine at amino acid 510 (Gln510Pro). No variations in sequence were observed in the other two families, and negative LOD scores excluded linkage to the PTPN11 locus, showing that leopard syndrome is genetically heterogeneous.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/5. Acute myelomonocytic leukemia in a boy with leopard syndrome (PTPN11 gene mutation positive).The leopard syndrome is a complex of multisystemic congenital abnormalities characterized by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q24.1, have been identified in 88% of patients with leopard syndrome. A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with leopard syndrome. This mutation is one of the two recurrent mutations most often associated with the syndrome. leukemia has not previously been reported in patients with leopard syndrome. The authors describe a 13-year-old boy diagnosed with both leopard syndrome and acute myelomonocytic leukemia (AML-M4).- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |