Elsevier

The Journal of Pediatrics

Volume 158, Issue 1, January 2011, Pages 142-148.e1
The Journal of Pediatrics

Original Article
Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases

https://doi.org/10.1016/j.jpeds.2010.07.027Get rights and content

Objective

To better describe the natural history, mode of inheritance, and the epidemiological and clinical features of isolated congenital asplenia, a rare and poorly understood primary immunodeficiency.

Study design

A French national retrospective survey was conducted in hospital pediatric departments. A definitive diagnosis of ICA was based on the presence of Howell-Jolly bodies, a lack of detectable spleen, and no detectable cardiovascular malformation.

Results

The study included 20 patients (12 males and 8 females) from 10 kindreds neither related to each other nor consanguineous. The diagnosis of ICA was certain in 13 cases (65%) and probable in 7 cases (35%). Ten index cases led to diagnosis of 10 additional cases in relatives. Five cases were sporadic and 15 were familial, suggesting autosomal dominant inheritance. Median age was 12 months at first infection (range, 2-516 months), 11 months at diagnosis of asplenia (range, 0-510 months), and 9.9 years at last follow-up (range, 0.7-52 years). Fifteen patients sustained 18 episodes of invasive bacterial infection, caused mainly by Streptococcus pneumoniae (61%). Outcomes were poor, with 9 patients (45%) dying from fulminant infection.

Conclusions

ICA is more common than was previously thought, with an autosomal dominant inheritance in at least some kindreds. Relatives of cases of ICA should be evaluated for ICA, as should children and young adults with invasive infection.

Section snippets

Methods

Between January 2002 and January 2003, a clinical questionnaire aimed at retrospectively recording cases of ICA in France was sent to all members of 4 French Pediatric Societies: the Pediatric Intensive Care and Emergency Group, the French Pediatric Intensive Care Society, the French Pediatric Infectious Diseases Group, and the Pediatric Immunology and Hematology Society. The Pediatric Cardiology Society was not solicited. Of 443 solicited clinicians, 294 (66%) responded to the survey by

Characteristics of Probands and Affected Relatives

Ten index cases (5 males and 5 females) led to the identification of ICA in a total of 20 patients (12 males and 8 females) from 10 unrelated kindreds (Figure 1). These individuals were born between 1957 and 2006, during which approximately 39.2 million births were recorded in France. Thus the prevalence of ICA can be estimated as at least 0.51 per million births. All probands were diagnosed in childhood, at a median age of 11 months. The screening of members from the 10 families led to the

Discussion

Our report of 20 patients with ICA from 10 kindreds in a national multicenter study in France adds to the previously published 50 case reports and small single-center series among 31 families. The incidence of ICA has been estimated based solely on postmortem series. Kanthan et al27 reviewed 293 pediatric autopsies after sudden unexpected death and identified 4 cases of asplenia, including 3 cases of AS and 1 case of ICA. In our series, the prevalence of ICA can be roughly estimated as at least

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    Supported by INSERM, University Paris Descartes, Rockefeller University, Howard Hughes Medical Institute, Dana Foundation, March of Dimes, the EU, and ANR (Agence nationale de la recherche). The authors declare no conflicts of interest.

    Contributed equally to this work.

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