Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up

Am J Med Genet A. 2005 Apr 15;134A(2):215-9. doi: 10.1002/ajmg.a.30589.


Cerebellar hypoplasia with endosteal sclerosis is an infrequent entity that has been described in only four cases. Major clinical symptoms are cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, microcephaly, growth retardation, endosteal sclerosis, tooth eruption disturbances, and hip dislocations. We report on a girl with this entity, whom we followed for 11 years. The endosteal sclerosis remained stationary over time, as were the clinical neurological symptoms, but neuroadiological symptoms were slowly progressive. We provide a short review of this probably autosomal recessively inherited disorder. (c) 2005 Wiley-Liss, Inc.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Cerebellar Ataxia / pathology
  • Cerebellar Diseases / pathology*
  • Cerebellum / abnormalities
  • Child
  • Child, Preschool
  • Developmental Disabilities / pathology
  • Female
  • Follow-Up Studies
  • Growth Disorders / pathology
  • Hip Dislocation / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Microcephaly / pathology
  • Muscle Hypotonia / pathology
  • Osteosclerosis / pathology*