Nelson J, Flaherty M, Grattan-Smith P
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth.
Am J Med Genet. 1997 Aug 8;71(2):134-8.
We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be distinguished clinically from other forms of aniridia and a presumptive diagnosis of Gillespie syndrome can be made in the first months of life on the basis of the ocular findings. Neurological involvement includes marked motor delay, hypotonia, disabling ataxia, and usually mental retardation. Cerebral and cerebellar atrophy with white matter changes on MRI scan were present in our second patient suggesting that patients with Gillespie syndrome may have more extensive CNS involvement than previously described. The parents of this child were first cousins; thus Gillespie syndrome may be heterogeneous with autosomal recessive and autosomal dominant forms.
我们描述了两名患有吉莱斯皮综合征（部分性无虹膜、小脑共济失调和智力障碍）的无血缘关系患者。典型表现是在一名低张力婴儿中发现固定性散大瞳孔。虹膜异常具有特异性，似乎是吉莱斯皮综合征的特征性表现。临床上可将其与其他形式的无虹膜相鉴别，基于眼部表现，在出生后的头几个月即可做出吉莱斯皮综合征的初步诊断。神经系统受累包括明显的运动发育迟缓、低张力、致残性共济失调，通常还有智力障碍。我们的第二名患者在MRI扫描中出现脑和小脑萎缩以及白质改变，提示吉莱斯皮综合征患者可能比之前描述的有更广泛的中枢神经系统受累。这个孩子的父母是近亲；因此，吉莱斯皮综合征可能具有常染色体隐性和常染色体显性两种不同类型。
