Posterior ocular malformations in children:: somatic, neuroradiological and cognitive aspects
Posterior ocular malformations in children:: somatic, neuroradiological and cognitive aspects
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DOI：
10.1080/08035250310009211
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发表时间：
2003-01-01
期刊：
影响因子：
3.8
通讯作者：
Hellström, A
中科院分区：
文献类型：
--
作者：
Fahnehjelm, KT;Wide, K;Hellström, A
目的：研究视神经发育不全或视神经/眼底缺损和/或小眼球引起的视力损害儿童的相关神经、内分泌和认知功能障碍。研究方法：对1990年至1998年出生的40名儿童进行了神经系统检查、神经放射学检查的重新评价、病历审查和认知水平检查。结果如下：在13/28例视神经发育不全儿童和3/12例缺损/小眼儿童中发现神经功能障碍（癫痫和/或运动障碍）。视神经发育不良患儿22/24例视路变细，16/22例垂体后叶和/或漏斗变细，14/27例透明隔缺失。其他类型的脑异常发生在9/26名儿童。在患有缺损/小眼球的儿童中，4/8名儿童的视路较薄，但无垂体或大脑中线异常。16名视神经发育不良的儿童接受了激素替代治疗，但没有一名儿童患有缺损/小眼球。16例视神经发育不全和垂体区异常的儿童中有13例有内分泌缺陷。在9/24的儿童视神经发育不良和5110的儿童缺损/小phthalmus.Conclusion：内分泌，神经和神经放射学缺陷似乎更常见的儿童视神经发育不良比儿童缺损。在磁共振成像中出现异常的垂体区域似乎预示着视神经发育不良儿童的内分泌缺陷。
Aim: To investigate associated neurological, endocrinological and cognitive dysfunctions in children with visual impairment caused by optic nerve hypoplasia or optic nerve/fundus coloboma and/or microphthalmus. Methods: Forty children born between 1990 and 1998 were assessed by neurological examination, re-evaluation of neuroradiological investigations, review of medical records and examination of cognitive levels. Results: Neurological dysfunctions (epilepsy and/or motor impairment) were found in 13/28 children with optic nerve hypoplasia and in 3/12 children with coloboma/microphthalmus. The optic pathways were thin in 22/24, an abnormal posterior pituitary gland and/or thin infundibulum was found in 16/22 and absence of septum pellucidum in 14/27 children with optic nerve hypoplasia. Other types of cerebral abnormalities occurred in 9/26 children. Among children with coloboma/microphthalmus, the optic pathways were thin in 4/8 children but none had pituitary or cerebral midline abnormalities. Sixteen children with optic nerve hypoplasia were receiving hormone substitution but none of the children with coloboma/microphthalmus. Thirteen of the 16 children with optic nerve hypoplasia and with an abnormal pituitary region had endocrinological deficiencies. Mental retardation was found in 9/24 of the children with optic nerve hypoplasia and in 5110 of the children with coloboma/microphthalmus.Conclusion: Endocrinological, neurological and neuroradiological defects seem more common in children with optic nerve hypoplasia than in children with coloboma. A pituitary region that appears abnormal in magnetic resonance imaging seems to predict endocrinological deficits in children with optic nerve hypoplasia.