Correspondence

Assessment of Splenic Function in Familial Asplenia

N Engl J Med 1999; 341:210-212July 15, 1999

Article

To the Editor:

A woman came to the pediatric infectious-disease clinic, requesting that we evaluate her two-month-old daughter for asplenia. An older daughter had been well until she was two years of age, at which time sepsis and disseminated intravascular coagulation developed, resulting in the loss of her fingers, left leg, and right foot. During her convalescence, a diagnosis of asplenia was made on the basis of an abnormal finding on technetium-99m scanning. There was no family history of asplenia, and the parents were not related. The family was counseled that congenital asplenia could be familial.1 In mice, splenogenesis is believed to be under the control of an orphan homeobox gene designated HOX11, and mutations of this gene, if homozygous, could be responsible for isolated congenital asplenia not associated with heterotaxia and the cardiac abnormalities of Ivemark's syndrome.2,3

A blood smear from the second daughter, obtained shortly after birth, showed Howell–Jolly bodies (Figure 1Figure 1Howell–Jolly Bodies (Arrows) within the Red Cells.). Howell–Jolly bodies are characteristic of asplenia, but they can also be found in normal neonates.4 To further assess the spleen, scanning with technetium-99m sulfur colloid was performed, which showed a normal liver but no spleen (Figure 2Figure 2Technetium-99m Sulfur-Colloid Scan Showing the Liver but No Spleen.). Examination of the child's red cells with interference phase-contrast microscopy showed that 20 percent of the cells had one or more surface indentations, or “pocks” (Figure 3Figure 3Interference Phase-Contrast Microscopy Showing Red Cells with Surface Indentations, or “Pocks.”). Pocks are membrane vesicles removed only by the spleen, and the presence of more than 12.0 percent pocked red cells is indicative of asplenia.5 In normal people, there are fewer than 2 percent pocked red cells. Interference phase-contrast microscopy may also be helpful in assessing splenic function after subtotal splenectomy.

Physical examination and other studies revealed no heterotaxia or congenital abnormalities. With a confirmed diagnosis of congenital hereditary asplenia, the child was given prophylactic penicillin, which will be continued for at least six years. Conjugate Haemophilus influenzae vaccine was administered, and pneumococcal and meningococcal vaccines will be given when the child is two years old.

Henry M. Feder, Jr., M.D.
Connecticut Children's Medical Center, Hartford, CT 06106

Howard A. Pearson, M.D.
Yale University School of Medicine, New Haven, CT 06510

5 References

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Citing Articles (5)

Citing Articles

1. 1

   Syed Ather Ahmed, Stanley Zengeya, Usha Kini, Andrew J. Pollard. (2010) Familial isolated congenital asplenia: case report and literature review. European Journal of Pediatrics 169:3, 315-318
   CrossRef

2. 2

   D. Spelman, J Buttery, A. Daley, D. Isaacs, I. Jennens, A. Kakakios, R. Lawrence, S. Roberts, A. Torda, D. A. R. Watson, I. Woolley, T. Anderson, A. Street. (2008) Guidelines for the prevention of sepsis in asplenic and hyposplenic patients. Internal Medicine Journal 38:5, 349-356
   CrossRef

3. 3

   F. J. J. HALBERTSMA, C. NEELEMAN, C. M. WEEMAES, M. DEUREN. (2005) The absent and vanishing spleen: Congenital asplenia and hyposplenism-two case reports. Acta Paediatrica 94:3, 369-371
   CrossRef

4. 4

   Howard A Pearson. 2003. Spleen: Disorders. .
   CrossRef

5. 5

   Bridget S. Wilkins . (2002) The spleen. British Journal of Haematology 117:2, 265-274
   CrossRef