Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Pediatric Asplenia Clinical Presentation

  • Author: Mudra Kumar, MD, MRCP, FAAP; Chief Editor: Harumi Jyonouchi, MD  more...
 
Updated: Nov 11, 2014
 

History

All patients with congenital or acquired asplenia or splenic dysfunction are at significant risk of fulminant bacteremia, especially from encapsulated bacteria.

  • Worldwide, most patients with asplenia or hyposplenia have an underlying hemoglobinopathy such as sickle cell disease, which causes splenic dysfunction.
    • Isolated asplenia and polysplenia are commonly associated with significant abnormalities involving other organ systems.
    • An awareness of these associations and syndromes may help in screening the patient for splenic dysfunction.
  • The most important clinical indication for the evaluation of splenic function is the presence of complex congenital heart disease. Patients should be evaluated for splenic dysfunction if any of the following are present:
    • Recurrent infection or sepsis, especially with encapsulated organisms
    • Family history of asplenia (may be autosomal dominant)
    • Cyanotic congenital heart disease or complex cardiac malformations
    • Evidence of visceral heterotaxy or other associated malformations
    • Bilateral trilobed or bilobed lungs on chest radiographs
  • In contrast, the patients with isolated congenital absence or hypoplasia of the spleen may not have any obvious clues because associated cardiovascular, pulmonary, GI, or genitourinary abnormalities may not be present to alert the physician to their underlying immunocompromised state. Children with these conditions may present to the primary caretaker with fever, overwhelming sepsis, or may even be moribund.
  • Features such as thrombocytosis, Howell Jolly bodies in red cells, or presence of target cells in the peripheral smear without a likely explanation should raise the suspicion of underlying splenic dysfunction.
  • All patients with an episode of invasive, overwhelming infections without any obvious underlying cause should be evaluated for the presence of a functional spleen. Recurrent episodes of invasive infections especially with encapsulated organisms may be helpful in identifying individuals with isolated absence or hypoplasia of the spleen. However, the absence of these features does not exclude splenic malfunction, although it may make the diagnosis more difficult.
Next

Physical

See the list below:

  • The spleen is not usually palpable during the physical examination, except in individuals with thin abdominal musculature. Hence, lack of a palpable of spleen does not confirm asplenia.
  • Patients with sickle cell disease, particularly children, may have enlarged nonfunctional spleens, especially in their earlier years (functional asplenia).
  • In visceral heterotaxy, a right-sided liver may be mistaken for splenic enlargement.
  • The other physical findings depend on the associated anomalies.
Previous
Next

Causes

See the list below:

  • Asplenia (and polysplenia) may be sporadic or familial (autosomal dominant).
  • Because congenital asplenia has been documented in multiple members of the same family and because it is a component of several well-defined syndromes, genetic factors may play an important role in its pathogenesis. However, no specific genetic defect has been identified.
  • Both asplenia and polysplenia have been described in the same family; this finding suggests that these defects may define a spectrum of related conditions.
  • The spleen may be surgically removed after significant splenic trauma or rupture.
  • Splenectomy may be part of clinical management in certain clinical disorders, such as idiopathic (autoimmune) thrombocytopenic purpura, hereditary spherocytosis, storage disorders or malignancy, either to prolong red cell or platelet survival, eliminate the physiological and mass effects of massive splenomegaly (pooling), or as part of cancer management, including staging procedure.
Previous
 
 
Contributor Information and Disclosures
Author

Mudra Kumar, MD, MRCP, FAAP Professor of Pediatrics, Course Director, Course 6 MSII, Preclerkship Director, Clinical Integration, Department of Pediatrics, University of South Florida Morsani College of Medicine

Mudra Kumar, MD, MRCP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Coauthor(s)

Cecilia P Mikita, MD, MPH Associate Program Director, Allergy-Immunology Fellowship, Associate Professor of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Staff Allergist/Immunologist, Walter Reed National Military Medical Center

Cecilia P Mikita, MD, MPH is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Joseph C Turbyville, MD Allergist-Immunologist, Family Allergy and Asthma

Joseph C Turbyville, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

Acknowledgements

John Wilson Georgitis, MD Consulting Staff, Lafayette Allergy Services

John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society

Disclosure: Nothing to disclose.

Francine Gross, MD Consulting Staff, Department of Pediatrics, Winter Haven Hospital

Disclosure: Nothing to disclose.

Acknowledgments

The authors wish to thank Oswaldo Castro, MD, for his assistance in reviewing this manuscript and providing expertise with regards to management of patients with sickle cell disease and asplenia.

References
  1. Paterson A, Frush DP, Donnelly LF, Foss JN, O'Hara SM, Bisset GS 3rd. A pattern-oriented approach to splenic imaging in infants and children. Radiographics. 1999 Nov-Dec. 19(6):1465-85. [Medline].

  2. Mikoluc B, Michalkiewicz J, Motkowski R, Smolka D, Pietrucha B, Piotrowska-Jastrzebska J, et al. Neutrophil phenotypic characteristics in children with congenital asplenia and splenectomized for hereditary spherocytosis. Immunol Invest. 2012. 41(1):61-74. [Medline].

  3. Mikoluc B, Motkowski R, Käyhty H, Heropolitanska-Pliszka E, Pietrucha B, Bernatowska E. Antibody response to Haemophilus influenzae type-b conjugate vaccine in children and young adults with congenital asplenia or after undergoing splenectomy. Eur J Clin Microbiol Infect Dis. 2012 May. 31(5):805-9. [Medline]. [Full Text].

  4. Motkowski R, Michalkiewicz J, Mikoluc B, Smolka-Afifi D, Pietrucha B, Kubiszewska I, et al. Peripheral blood T lymphocyte subsets in children with congenital asplenia. Hum Immunol. 2012 Nov. 73(11):1091-7. [Medline].

  5. Morgan TL, Tomich EB. Overwhelming post-splenectomy infection (OPSI): a case report and review of the literature. J Emerg Med. 2012 Oct. 43(4):758-63. [Medline].

  6. Uchida Y, Matsubara K, Wada T, Oishi K, Morio T, Takada H, et al. Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child. J Infect Chemother. 2012 Aug. 18(4):576-80. [Medline].

  7. Konda S, Zell D, Milikowski C, Alonso-Llamazares J. Purpura fulminans associated with Streptococcus pneumoniae septicemia in an asplenic pediatric patient. Actas Dermosifiliogr. 2013 Sep. 104(7):623-7. [Medline].

  8. Committee on Infectious Diseases. Meningococcal conjugate vaccines policy update: booster dose recommendations. Pediatrics. 2011 Dec. 128(6):1213-8. [Medline].

  9. Angelski CL, McKay E, Blackie B. A case of functional asplenia and pneumococcal sepsis. Pediatr Emerg Care. 2011 Jul. 27(7):639-41. [Medline].

  10. Casey B, Devoto M, Jones KL, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet. 1993 Dec. 5(4):403-7. [Medline].

  11. Chellapandian D, Schneider A. Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. Case Rep Pediatr. 2013. 2013:218124. [Medline]. [Full Text].

  12. Committee on Infectious Diseases American Academy of Pediatrics. Red Book: 2006 Report of the Committee on Infectious Diseases. 27th Ed. 2006.

  13. Couturier AP, Dahl K. Bordetella holmesii endocarditis: case report and review of literature. Pediatr Infect Dis J. 2014 Jun. 33(6):661-4. [Medline].

  14. Elsayes KM, Narra VR, Mukundan G, et al. MR imaging of the spleen: spectrum of abnormalities. Radiographics. 2005. Jul-Aug;25(4):967-82. [Medline]. [Full Text].

  15. Escobar-Diaz MC, Friedman K, Salem Y, Marx GR, Kalish BT, Lafranchi T, et al. Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). Am J Cardiol. 2014 Aug 15. 114(4):612-7. [Medline].

  16. Fremont RD, Rice TW. Splenosis: a review. South Med J. 2007 Jun. 100(6):589-93. [Medline].

  17. Garson A, Bricker JT, McNamara DG. The Science and Practice of Pediatric Cardiology. 1990. Vol 3: 1288-97.

  18. Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, et al. Invasive pneumococcal disease in children can reveal a primary immunodeficiency. Clin Infect Dis. 2014 Jul 15. 59(2):244-51. [Medline]. [Full Text].

  19. Gill DG, Kara M, Moore L. Archives of diseases in childhood. 1991. Vol 66: 1366.

  20. Gonzalez P, Humeres P, Arroyo A. Liver uptake with phytate colloid in normal subjects and patients with cirrhosis: a possible alternative to extrahepatic measurements. J Nucl Med. 1991 Jul. 32(7):1467-8. [Medline].

  21. Gorg C, Eickhorn M, Zugmaier G. The small spleen: sonographic patterns of functional hyposplenia or asplenia. J Clin Ultrasound. 2003. Mar-Apr;31(3):152-5. [Medline].

  22. Harrod VL, Howard TA, Zimmerman SA, Dertinger SD, Ware RE. Quantitative analysis of Howell-Jolly bodies in children with sickle cell disease. Exp Hematol. 2007 Feb. 35(2):179-83. [Medline].

  23. Katcher AL. Familial asplenia, other malformations, and sudden death. Pediatrics. 1980. 65(3):633-635. [Medline].

  24. Kevy SV, Tefft M, Vawier GF, Rosen FS. Hereditary splenic hypoplasia. Pediatrics. 1968 Nov. 42(5):752-7. [Medline].

  25. Kim SJ. Heterotaxy syndrome. Korean Circ J. 2011 May. 41(5):227-32. [Medline]. [Full Text].

  26. Lane PA, O'Connell JL, Lear JL, et al. Functional asplenia in hemoglobin SC disease. Blood. 1995 Apr 15. 85(8):2238-44. [Medline].

  27. Leahy RT, Philip RK, Gibbons RJ, et al. Asplenia in ATR-X Syndrome: a second report. Am J Med Genet A. 2005. 15;139 (1):37-9. [Medline].

  28. Lin XZ, Chang TM, Tsai HM, et al. Liver, spleen and tumor volume measured by personal computer. Hepatogastroenterology. 1999 Mar-Apr. 46(26):838-42. [Medline].

  29. Lindor NM, Smithson WA, Ahumada CA, et al. Asplenia in two father-son pairs. Am J Med Genet. 1995 Mar 13. 56(1):10-1. [Medline].

  30. Long WA. Ivemark syndrome (cardiosplenic or heterotaxy syndrome). Fetal and Neonatal Cardiology. 1990. 616-19.

  31. Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tournilhac O, et al. Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr. 2011 Jan. 158(1):142-8, 148.e1. [Medline].

  32. Mebius RE, Kraal G. Structure and function of the spleen. Nat Rev Immunol. 2005 Aug. 5(8):606-16. [Medline].

  33. Melles DC, de Marie S. Prevention of infections in hyposplenic and asplenic patients: an update. Neth J Med. 2004 Feb. 62(2):45-52. [Medline].

  34. Moller JH, Neal WA. Congenital cardiac anomalies. Fetal, Neonatal, and Infant Cardiac Disease. 1990. 767-71.

  35. Morgan MS. Prophylaxis should be considered even for trivial animal bites. BMJ. 1997 May 10. 314(7091):1413. [Medline].

  36. Panagopoulos MI, Saint Jean M, Brun D, Guiso N, Bekal S, Ovetchkine P, et al. Bordetella holmesii bacteremia in asplenic children: report of four cases initially misidentified as Acinetobacter lwoffii. J Clin Microbiol. 2010 Oct. 48(10):3762-4. [Medline]. [Full Text].

  37. Pearson HA. The spleen and disturbances of splenic function. Hematology. 1993. 2:1058-9.

  38. Pollak U, Bar-Sever Z, Hoffer V, Marcus N, Scheuerman O, Garty BZ. Asplenia and functional hyposplenism in autoimmune polyglandular syndrome type 1. Eur J Pediatr. 2009 Feb. 168(2):233-5. [Medline].

  39. Price VE, Blanchette VS, Ford-Jones EL. The prevention and management of infections in children with asplenia or hyposplenia. Infect Dis Clin North Am. 2007 Sep. 21(3):697-710, viii-ix. [Medline].

  40. Price VE, Blanchette VS, Ford-Jones EL. The prevention and management of infections in children with asplenia or hyposplenia. Infect Dis Clin North Am. 2007 Sep. 21(3):697-710, viii-ix. [Medline].

  41. Price VE, Dutta S, Blanchette VS, et al. The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto. Pediatr Blood Cancer. 2006. May 1;46(5):597-603. [Medline].

  42. Rose V, Izukawa T, Moes CA. Syndromes of asplenia and polysplenia. A review of cardiac and non- cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J. 1975 Aug. 37(8):840-52. [Medline].

  43. Stiehm ER. Immunodeficiency disorders. Immunologic Disorders in Infants and Children. 1996. 4th ed: 326-327.

  44. Strouse PJ, Haller JO, Berdon WE, Rosovsky MA, Bellah RD, Barr Jr M. Horseshoe adrenal gland in association with asplenia: presentation of six new cases and review of the literature. Pediatr Radiol. 2002 Nov. 32(11):778-82. [Medline].

  45. Tham KT, Teague MW, Howard CA, Chen SY. A simple splenic reticuloendothelial function test: counting erythrocytes with argyrophilic inclusions. Am J Clin Pathol. 1996 May. 105(5):548-52. [Medline].

  46. Tribioli C, Lufkin T. The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleen. Development. 1999 Dec. 126(24):5699-711. [Medline].

  47. Updated recommendation from the Advisory Committee on Immunization Practices (ACIP) for revaccination of persons at prolonged increased risk for meningococcal disease. MMWR Morb Mortal Wkly Rep. 2009 Sep 25. 58(37):1042-3. [Medline].

  48. Updated recommendations on the use of meningococcal vaccines. Pediatrics. 2014 Aug. 134(2):400-3. [Medline].

  49. US Preventive Services Task Force. Screening for sickle cell disease in newborns: recommendation statement. Am Fam Physician. 2008 May 1. 77(9):1300-2. [Medline].

  50. Use of 13-valent pneumococcal conjugate vaccine and 23-valent pneumococcal polysaccharide vaccine among children aged 6-18 years with immunocompromising conditions: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Morb Mortal Wkly Rep. 2013 Jun 28. 62(25):521-4. [Medline].

  51. Waldman JD, Rosenthal A, Smith AL, et al. Sepsis and congenital asplenia. J Pediatr. 1977 Apr. 90(4):555-9. [Medline].

  52. Wang JK, Hsieh KH. Immunologic study of the asplenia syndrome. Pediatr Infect Dis J. 1991 Nov. 10(11):819-22. [Medline].

  53. Wolla CD, Hlavacek AM, Schoepf UJ, Bucher AM, Chowdhury S. Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography. J Cardiovasc Comput Tomogr. 2013 Nov-Dec. 7(6):408-16. [Medline]. [Full Text].

  54. Wong T, Yeung J, Hildebrand KJ, Junker AK, Turvey SE. Human primary immunodeficiencies causing defects in innate immunity. Curr Opin Allergy Clin Immunol. 2013 Dec. 13(6):607-13. [Medline].

  55. Woods CR. Prevention of meningococcal infections in the first 2 years of life. Pediatr Ann. 2013 Aug. 42(8):164-71. [Medline].

  56. Yamamura K, Joo K, Ohga S, Nagata H, Ikeda K, Muneuchi J, et al. Thrombocytosis in asplenia syndrome with congenital heart disease: a previously unrecognized risk factor for thromboembolism. Int J Cardiol. 2013 Sep 1. 167(5):2259-63. [Medline].

Previous
Next
 
Peripheral blood smear shows Howell-Jolly (HJ) bodies in RBCs.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.