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familial splenic asplenia/hypoplasia

MIM.271400

Tuesday 31 January 2006

Congenital isolated asplenia may arise as a minor form of situs abnormalities or result from an unrelated specific defect of spleen development. It is a rare life-threatening condition and pneumococcal sepsis is often the first sign of the disease.

Synopsis

- overwhelming sepsis

- congenital isolated asplenia
- Howell-Jolly bodies on blood smears

See also

- splenic hypoplasia
- asplenia

References

- Halbertsma FJ, Neeleman C, Weemaes CM, van Deuren M. The absent and vanishing spleen: congenital asplenia and hyposplenism—two case reports. Acta Paediatr. 2005 Mar;94(3):369-71. PMID: 16028659

- Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A. Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others. Eur J Pediatr. 2002 Jul;161(7):368-72. PMID: 12111187

- Feder HM Jr, Pearson HA. Assessment of splenic function in familial asplenia. N Engl J Med. 1999 Jul 15;341(3):210-2. PMID: 10409045

- Gillis J, Harvey J, Isaacs D, Freelander M, Wyeth B. Familial asplenia. Arch Dis Child. 1992 May;67(5):665-6. PMID: 1599322

- Dyke, M. P.; Martin, R. P.; Berry, P. J. : Septicaemia and adrenal haemorrhage in congenital asplenia. Arch. Dis. Child. 66: 636-637, 1991. PubMed ID : 2039257

- Gill, D. G.; Kara, M. : Septicaemia and adrenal haemorrhage in congenital asplenia. (Letter) Arch. Dis. Child. 66: 1366 only, 1991. PubMed ID : 1755662

- Gillis, J.; Harvey, J.; Isaacs, D.; Freelander, M.; Wyeth, B. : Familial asplenia. (Letter) Arch. Dis. Child. 67: 665-666, 1992. PubMed ID : 1599322

- Kevy, S. V.; Tefft, M.; Vawter, G. F.; Rosen, F. S. : Hereditary splenic hypoplasia. Pediatrics 42: 752-758, 1968. PubMed ID : 5685358

- Lindor, N. M.; Smithson, W. A.; Ahumada, C. A.; Michels, V. V.; Opitz, J. M. : Asplenia in two father-son pairs. Am. J. Med. Genet. 56: 10-11, 1995. PubMed ID : 7747770

- Moore, L. : Septicaemia and adrenal haemorrhage in congenital asplenia. (Letter) Arch. Dis. Child. 66: 1366-1367, 1991.