背景:吉莱斯皮综合征(GS)是一种罕见的遗传性疾病,结合了眼部和大脑的缺陷。它于1965年由FrederickD.Gillespie首次描述。他报告了先天性无虹膜三联征,一名22岁妇女和她19岁兄弟的小脑共济失调和智力低下。其病因尚不清楚。迄今为止,文献中报道了不到30例患者。
方法:我们报告一例2岁儿童,出生于近亲婚姻.在8个月大的时候,父母因精神运动获取延迟而进行咨询,MRI检查显示Vermian发育不全。只有2岁的时候,在左眼挫伤后,双眼都客观化了部分无虹膜,与左眼的晶状体缺损有关。鉴于这些临床放射学数据,Gillespie综合征的诊断得以保留.
结论:Gillespie综合征是一种遗传性疾病。它结合了眼部和神经系统的异常。它是由Gillespie于1965年首次描述的。Gillespie综合征的眼部表现主要与虹膜有关。Aniridia总是存在,在大多数情况下,瞳孔边缘的扇形外观。它可以伴随着额外的眼部发现,如中央凹,视神经发育不全,视网膜色素减退,和/或导致视敏度降低的色素性黄斑改变。除了眼部异常,Gillespie综合征.(GS)包括神经系统缺陷,特别是轴向低张力,缺乏协调,构音障碍和静态和动态共济失调。
结论:Gillespie综合征的诊断应在任何表现为双侧但部分无虹膜的低张儿童中引起。预后取决于对眼部和精神症状和残疾的适当管理和预期。
BACKGROUND: Gillespie syndrome (GS) is a rare genetic disorder that combines ocular and cerebral defects.It was first described in 1965, by Frederick D. Gillespie. He reported a triad of congenital aniridia, cerebellar ataxia and mental retardation in a 22-year-old woman and her 19-year-old brother. Its etiology is still unknown.To date, less than 30 patients have been reported in the literature.
METHODS: We report the case of a 2 years old child, born of a consanguineous marriage. At the age of 8 months, the parents consulted for a delay in psychomotor acquisition for which the MRI performed showed a vermian hypoplasia. It was only at the age of 2 years, following a contusive trauma of the left eye that a partial aniridia was objectified on both eyes associated with a lens coloboma on the left eye. In view of these clinico-radiological data, the diagnosis of Gillespie syndrome was retained.
CONCLUSIONS: Gillespie syndrome is a genetic disease. It combines ocular and neurological abnormalities. It was first described in 1965 by Gillespie. The ocular manifestations of Gillespie syndrome mainly concern the iris. Aniridia is always present with, in most cases, a scalloped appearance of the pupillary margin. It can be accompanied with additional ocular findings such as foveal, optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity.In addition to ocular abnormalities, the Gillespie syndrome. (GS) includes neurological deficiencies, particularly axial hypotonia, lack of coordination, dysarthria and static and kinetic ataxia.
CONCLUSIONS: The diagnosis of Gillespie Syndrome should be evoked in any hypotonic child presenting with bilateral but partial aniridia. Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities.