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A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure
Author(s) -
HREIDARSSON S.,
KRISTJANSSON K.,
JOHANNESSON G.,
JOHANNSSON J. H.
Publication year - 1988
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1988.tb10751.x
Subject(s) - medicine , pancytopenia , microcephaly , cerebellar hypoplasia (non human) , pediatrics , hypoplasia , pathology , cerebellum , surgery , bone marrow
. 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. Heyeraal 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.