Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight,
failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and
pancytopenia without either telangiectasia or chromosomal instability. One sibling
died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular
and granular layers with relative preservation of Purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression
to a myelodysplastic disorder. There was no evidence of any chromosomal instability
following exposure of fibroblasts and lymphocytes to irradiation. Monosomy-7 was not
present in the surviving sibling. We suspect that these two patients represent another
example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling
for evidence of any karyotypic abnormality.
Cerebellar hypoplasia - Pancytopenia - Ataxia -
Hoyeraal-Hreidarsson syndrome
