Abstract
A male infant with primary combined immunodeficiency, microcephaly with marked cerebellar hypoplasia, and growth failure of prenatal onset is presented. He developed progressive pancytopenia in the 3rd year of life and died at 42 months from disseminated aspergillosis. Laboratory studies and post mortem examination failed to reveal any known aetiology for his disorder. Hreidarsson et al. [3] previously described a syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure in three boys, with similar clinical and laboratory findings. Although extensive immunological investigations were not performed in those previous patients, recurrent infections in two of them are suggestive of immunodeficiency. In the light of the immunological findings in our patient, we propose that the condition of the four patients belongs to the same syndrome, which has to be considered as a primary combined immunodeficiency syndrome. This syndrome can be distinguished from the other known immunodeficiency syndromes by its associated characteristic features, namely microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and progressive pancytopenia.
Similar content being viewed by others
Abbreviations
- ID :
-
immunodeficiency
- CID :
-
combined immunodeficiency
- BM :
-
bone marrow
References
Berthet F, Le Deist F, Duliège AM, Griscelli C, Fischer A (1993) Clinical consequences and treatment of primary immunodeficiency syndromes characterized by functional T and B lymphocyte anomalies (combined immune deficiency). J Pediatr (in press)
Hoyeraal HM, Lamvik J, Moe PJ (1970) Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 59:185–191
Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH (1988) A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 77:773–777
Rosen FS, et al (1992) Report of a WHO Scientific Group. Primary immunodeficiency diseases Immunodef Rev 3:195–236
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Berthet, F., Caduff, R., Schaad, U.B. et al. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. Eur J Pediatr 153, 333–338 (1994). https://doi.org/10.1007/BF01956413
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01956413