| Familial isolated congenital asplenia: case report and literature review. | |
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MedLine Citation:
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PMID: 19618213 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia. |
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Authors:
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Syed Ather Ahmed; Stanley Zengeya; Usha Kini; Andrew J Pollard |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2009-07-19 |
Journal Detail:
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Title: European journal of pediatrics Volume: 169 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-01-28 Completed Date: 2010-04-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 315-8 Citation Subset: IM |
Affiliation:
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Luton and Dunstable Hospital NHS Trust, 40 St. Augustine Avenue, Luton LU3 1QB, UK. Dr_ather77@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Infant Spleen / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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