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Aniridia - cerebellar ataxia - intellectual disability

Orpha number ORPHA1065
Synonym(s) Gillespie syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10 -
ICD-O -
OMIM
UMLS
  • C0431401
MeSH -
MedDRA -
SNOMED CT
  • 253176002

Summary

The unusual association of aniridia, cerebellar ataxia, and mental deficiency has been described in about 10 families, most of which with more than one affected individual, mainly girls. The syndrome, named Gillespie syndrome after the name of the author of the first clinical description, represents a distinct entity of the Marinesco-Sjögren syndrome where congenital cataract is present, besides cerebellar ataxia and mental deficiency, and also distinct of autosomal dominant aniridia. The diagnosis of Gillespie syndrome must be suggested in case of fixed dilated pupils in a hypotonic infant. Aniridia is visible at birth and the iris abnormality is specific and pathognomonic for the syndrome. A presumptive diagnosis can be made in the first months of life: from slit lamp examination, the pupil border of the iris typically shows a scalloped 'festooned' edge with iris strands extending onto the anterior lens surface at regular intervals. Noteworthy is that the lens and cornea of Gillespie syndrome are clear, whereas congenital cataract and corneal opacities are relatively common among patients with isolated aniridia. Mental retardation is constant ; developmental milestones are delayed, with incoordination, attention tremor, and scanning speech. There may be some improvement in motor performance with age. Congenital pulmonary stenosis and malformed helix were reported in one case. MRI may show cerebral and cerebellar atrophy with white matter changes, suggesting that patients with Gillespie syndrome may have extensive CNS involvement. Although some families are compatible with autosomal dominant inheritance, Gillespie syndrome is more likely to be an autosomal recessive condition. PAX6 gene analysis can be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome. To elucidate the underlying genetic defect, karyotyping and the search for de novo translocations should be performed.

Expert reviewer(s)

  • Dr Elisabeth ROBERT-GNANSIA

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