Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages

Neuropediatrics. 1998 Dec;29(6):302-6. doi: 10.1055/s-2007-973582.


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.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / genetics
  • Ataxia / physiopathology
  • Cerebellum / abnormalities
  • Cerebellum / pathology
  • Child, Preschool
  • Chromosome Aberrations*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / physiopathology
  • Disease Progression
  • Failure to Thrive* / genetics
  • Failure to Thrive* / pathology
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Myelodysplastic Syndromes / genetics
  • Nervous System Malformations* / genetics
  • Nervous System Malformations* / pathology
  • Nuclear Family
  • Oral Ulcer / genetics
  • Pancytopenia* / genetics
  • Pedigree
  • Syndrome
  • Tongue Diseases / genetics