Sep 1, 1988

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

Acta paediatrica Scandinavica
S HreidarssonJ H Johannsson

Abstract

A male infant with congenital thrombocytopenia, progressing to pancytopenia in the second year of life is presented. Other findings included microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and severe psychomotor retardation. He died at 23 months of age from candida albicans septicemia. Laboratory studies and a postmortem examination failed to reveal any known etiology for his disorder, but parental consanguinity suggests a genetic basis with an autosomal recessive mode of inheritance. Høyeraal et al. have previously reported two brothers with similar clinical and laboratory findings. It is proposed that the condition of these three patients should be considered as a separate syndrome of congenital pancytopenia, distinguished from other congenital myeloid dysplasias by the extramedullary findings.

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  • Citations57

References

Mentioned in this Paper

Cerebellar Diseases
Septicemia
Fanconi Anemia
Laboratory Studies
Thrombocytopenia
Candida albicans
Congenital Thrombocytopenia
Autopsy
Failure to Thrive
Etiology

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