title: Gillespie syndrome: two further cases.
abstract: 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.
authors.affiliation: Department of Paediatric Neurology, Red Cross Children's Hospital, School of Child and Adolescent Health, University of Cape Town, Rondebosch, South Africa. kirstyd@doctors.org.uk
authors.forename: Kristen A
authors.initials: KA
authors.lastname: Donald
authors.forename: Rhianne
authors.initials: R
authors.lastname: Grotte
authors.forename: Antony C
authors.initials: AC
authors.lastname: Crutchley
authors.forename: Jo M
authors.initials: JM
authors.lastname: Wilmshurst
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D015783:Aniridia / Q000175:diagnosis*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002524:Cerebellar Ataxia / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis*; D035583:Rare Diseases; D013019:South Africa; D013577:Syndrome; D014057:Tomography, X-Ray Computed