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Journal of Child Neurology
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Gillespie Syndrome: Two Further Cases

Kirsten A. Donald, MRCPCH

Department of Paediatric Neurology Red Cross Children's Hospital School of Child and Adolescent Health University of Cape Town Rondebosch, Cape Town, South Africa, kirstyd{at}doctors.org.uk.

Rhianne Grotte, FRCS

Department of Ophthalmology Red Cross Children's Hospital School of Child and Adolescent Health University of Cape Town Rondebosch, Cape Town, South Africa

Antony C. Crutchley, FCP

Chelmsford Medical Centre Durban, South Africa

Jo M. Wilmshurst, FCP

Department of Paediatric Neurology Red Cross Children's Hospital School of Child and Adolescent Health University of Cape Town Rondebosch, Cape Town, South Africa

We describe two unrelated male children with Gillespie syndrome, a rare genetic disorder consisting of cerebellar ataxia, partial aniridia, and psychomotor delay. One was more severely affected than the other, but neither had evidence of neuroregression. Partial aniridia was a key diagnostic marker, present at birth in both patients. Neurocognitive impairment and cerebellar ataxia were severe in one and mild in the other. The genetics of this condition remain undefined. Although believed to be an autosomal recessive condition, no clear, single candidate gene has been identified. (J Child Neurol 2006;21:337—340; DOI 10.2310/7010.2006.00052).

Journal of Child Neurology, Vol. 21, No. 4, 337-340 (2006)
DOI: 10.1177/08830738060210040201
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