PARTIAL ANIRIDIA, CEREBELLAR ATAXIA, MENTAL RETARDATION- THE GILLESPIE SYNDROME

97th DOG Annual Meeting 1999

P508
PARTIAL ANIRIDIA, CEREBELLAR ATAXIA, MENTAL RETARDATION- THE GILLESPIE SYNDROME

K. Vanselow, M. Kieslich, R. Abraham, A. Zubcov

In 1965 Frederick Gillespie first described two siblings with partial aniridia, ataxia and mental retardation. Since then this syndrome was followed up in a number of case reports.

Case report: We report on an eight year old daughter of German non-consanguineous parents with an inconspicuous family history.

Ophthalmological findings: Bilateral wide, non reacting pupils with a remaining iris width of 1.5mm, no iris transillumination, pupil with and without pilocarpin 1% 7.5mm, no nystagmus, slight hypertelorism and ptosis, myopia, astigmatism, visual acuity cc 6/18 SGT, esotropia of the left eye, anterior segment and fundi without other pathology.

Pediatric findings: Motoric and mental retardation with severe cerebellar ataxia and dysarthria developed since birth. Walking without help was not possible. Additional features were a valvular pulmonary stenosis and a moderate helix dysplasia. MRI showed cerebellar atrophy of the vermis with a typical 'umbrella'-configuration. Genetics: Normal XX-chromosoms, no Dollfus-de novo- translocation, result of a possible PAX 6 gene mutation not yet available

Conclusion: The combination of muscular hypotonia and fixed mydriasis in the first year of life is strongly suggestive of Gillespie syndrome. The genetics and the gen locus are not yet definitely found. Because of both clinical and scientific reasons chromosome analysis concerning the PAX 6 gene or a de novo translocation should be performed.

Department of Ophthalmology, JW.Goethe University,Theodor-Stern-Kai 7 D- 60590 Frankfurt

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