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[一名患有朗顿-唐综合征的早产儿的胼胝体发育不全]

[Agenesis of the corpus callosum in a premature infant associated with Langdon-Down syndrome].

作者信息

Velisavljev-Filipović Gordana

机构信息

Institut za zdravstvenu zastitu dece i omladine Novi Sad, Klinika za decje bolesti, Centar za neonatologiju, intenzivnu negu i prevremeno rodenu novorodencad, Odeljenje za prevremeno rodenu novorodencad.

出版信息

Med Pregl. 2005 Nov-Dec;58(11-12):587-91. doi: 10.2298/mpns0512587v.

Abstract

INTRODUCTION

Agenesis of the corpus callosum is an abnormality of the part of the brain connecting the two cerebral hemispheres. It can be partial, complete or atypical. The fibers from the cerebral cortex project towards the homotypical region of the contra-lateral cortex passing through the corpus callosum, and crossing the middle line. The absence of corpus callosum causes failure of information transfer from one hemisphere to the other. Children with this anomaly present with learning disabilities and trouble with memorizing facts. Agenesis of corpus callosum may be of syndromic or non-syndromic type. The more common form is the one not associated with any syndrome. The agenesis of corpus callosum is more frequent in male children.

CASE REPORT

This paper presents a child from a twin pregnancy with partial absence of corpus callosum. The pregnancy was not controlled. It ended in premature birth. The afflicted twin is a boy, second in birth order. Apart from agenesis of corpus callosum, he also suffers from Down syndrome. The first twin is healthy, with corpus callosum and with normal karyotype. There was no consanquinity. In the 6th month of pregnancy the mother suffered from infection of the upper respiratory tract that might be the etiological factor of this anomaly. The child was born with hypotrophy, and all anthropometric parameters were below the third percentile. In the neonatal period, the agenesis of corpus callosum was diagnosed by ultrasonic examination and confirmed by CT and MR examinations. The child is now three and a half month old. Active monitoring of the psychical and motor development will show whether there will be any retardation in the psycho-motor development and later deficiency of the higher corticalfunctions and intelligence.

DISCUSSION AND CONCLUSION

The clinical characteristics of this anomaly are numerous. They range from asymptomatic cases, with normal intellectual capacity, to severe mental retardation. Radiological and genetic markers cannot make a difference between the asymptomatic and symptomatic characteristics of the disease. Therefore, it is very difficult to give genetic advice if the diagnosis is made prenatally. This part of the central nervous system is very well visualized by ultrasonic examination, thus in the absence of corpus callosum a special attention must be paid to other parts of the central nervous system, for diagnosing associated anomalies. If the diagnosis of agenesis of corpus callosum is made prenatally by ultrasound, a MR examination is advised for diagnosing other anomalies, especially in the central nervous system like lissencephalia, schizocephalia or heterotopia of the gray matter, where MR examination is superior to others.

摘要

引言

胼胝体发育不全是大脑中连接两个脑半球部分的一种异常情况。它可以是部分性、完全性或非典型性的。来自大脑皮层的纤维穿过胼胝体,投射到对侧皮层的同型区域,并跨越中线。胼胝体缺失导致信息无法从一个半球传递到另一个半球。患有这种异常的儿童存在学习障碍和记忆事实困难的问题。胼胝体发育不全可能是综合征型或非综合征型。更常见的形式是与任何综合征无关的那种。胼胝体发育不全在男性儿童中更为常见。

病例报告

本文介绍了一名来自双胎妊娠的儿童,其胼胝体部分缺失。妊娠未得到控制,以早产告终。患病的双胞胎是一名男孩,排行第二。除了胼胝体发育不全外,他还患有唐氏综合征。第一个双胞胎健康,有胼胝体且核型正常。父母无近亲关系。在妊娠第6个月时,母亲患上呼吸道感染,这可能是这种异常的病因。孩子出生时发育迟缓,所有人体测量参数均低于第三百分位。在新生儿期,通过超声检查诊断出胼胝体发育不全,并经CT和MR检查证实。孩子现在三个半月大。对其心理和运动发育进行积极监测将显示是否会出现心理运动发育迟缓以及随后高级皮层功能和智力方面的缺陷。

讨论与结论

这种异常的临床特征多种多样。从智力正常的无症状病例到严重智力迟钝都有。放射学和遗传学标志物无法区分该疾病的无症状和有症状特征。因此,如果在产前做出诊断,很难提供遗传咨询。通过超声检查可以很好地观察到中枢神经系统的这一部分,因此在胼胝体缺失的情况下,必须特别关注中枢神经系统的其他部分,以诊断相关异常。如果通过超声在产前诊断出胼胝体发育不全,建议进行MR检查以诊断其他异常,特别是在中枢神经系统,如无脑回畸形、裂脑畸形或灰质异位症,在这些方面MR检查优于其他检查。

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