Teär Fahnehjelm K, Wide K, Flodmark O, Ek U, Hellström A
Department of Clinical Science, Division of Paediatric Ophthalmology, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden.
Acta Paediatr. 2003;92(3):301-8. doi: 10.1080/08035250310009211.
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.
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.
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 5/10 of the children with coloboma/microphthalmus.
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.
研究视神经发育不全或视神经/眼底缺损和/或小眼症所致视力障碍儿童的相关神经、内分泌及认知功能障碍。
对1990年至1998年出生的40名儿童进行神经学检查、神经放射学检查结果的重新评估、病历回顾及认知水平检查。
在28名单纯视神经发育不全儿童中，13名存在神经功能障碍（癫痫和/或运动障碍）；在12名患有缺损/小眼症的儿童中，3名存在神经功能障碍。24名单纯视神经发育不全儿童中，22名视路变细；22名中，16名发现垂体后叶异常和/或漏斗部变细；27名中，14名透明隔缺如。26名单纯视神经发育不全儿童中，9名出现其他类型脑异常。在患有缺损/小眼症的儿童中，8名中有4名视路变细，但均无垂体或脑中线异常。16名单纯视神经发育不全儿童接受激素替代治疗，而患有缺损/小眼症的儿童均未接受。16名单纯视神经发育不全且垂体区域异常的儿童中，13名存在内分泌缺陷。24名单纯视神经发育不全儿童中，9名存在智力发育迟缓；10名患有缺损/小眼症的儿童中，5名存在智力发育迟缓。
内分泌、神经及神经放射学缺陷在视神经发育不全儿童中似乎比在患有缺损的儿童中更常见。磁共振成像显示垂体区域异常似乎可预测视神经发育不全儿童的内分泌缺陷。
