Linked Life Data

12745286

Source:http://linkedlifedata.com/resource/pubmed/id/12745286

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-5-14
pubmed:abstractText
The Sebastian syndrome (SS) is a MYH9-related disorders, which are an extremely infrequent group of four autosomal dominant illnesses. SS consist of giant platelets, leukocyte inclusions and thrombocytopenia. To our knowledge, there are no case reports of this syndrome in South America. The propositus was a 35-year-old Argentine woman with a history of purpuric lesions in her lower limbs and thrombocytopenia. Idiopathic thrombocytopenia purpura (ITP) was previously diagnosed, but she did not respond to treatment with steroids. Family history failed to provide any evidence of hearing loss, easy bruising, nephritis, renal failure or cataracts. The patient and 11 members of her family were evaluated. The diagnosis of SS was established by demonstrating giant platelets, thrombocytopenia and leukocyte inclusions in peripheral smear in two relatives and by peripheral smear and electronic microscopy in the propositus. MYH9-related disorders should be suspected whenever a patient has a low platelet count or a bleeding diathesis of unknown origin. In these cases, the history, carefully peripheral smear exam, immunocytochemistry and electronic microscopy will be of great help. Differentiation ITP with SS is important to avoid unnecessary diagnostic studies and treatments.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1592-8721
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
ECR17
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Sebastian syndrome: report of the first case in a South American family.
pubmed:affiliation
Hospital Privado Centro Medico de Cordoba, Naciones Unidas 346, Barrio Parque Velez Sarsfield, RA 5016, Cordoba, Argentina. dcbalderramo@yahoo.com
pubmed:publicationType
Journal Article, Case Reports