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[脑性巨人症。结合一例病例对文献的综述]

[Cerebral gigantism. Review of the literature apropos of one case].

作者信息

Maes B, Caron J, Couchot J, Gross A, Leutenegger M

出版信息

Sem Hop. 1976;52(25-28):1537-42.

PMID:181850
Abstract

The authors report a case of cerebral gigantism and review 83 cases found in the world literature. The diagnosis depends on the association of several factors, none of which alone are specific but which, on the whole, form a fairly characteristic picture. Large size at birth, leading only rarely to gigantism at adult age. Facial dysmorphia of acromegaloid type. Ecephalopathy with mental deficiency without any neuroradiological abnormality. Finally, endocrine investigations and somatotropic function were normal. No etiology has been found up to now. The most satisfactory theory is that of a hypothalamopituitary disturbance. Treatment may simple avoid excess height at adult age and is based on sex hormone therapy to accelerate bony maturation.

摘要

作者报告了一例脑性巨人症病例,并回顾了世界文献中发现的83例病例。诊断取决于多种因素的综合,其中没有一个因素单独具有特异性,但总体上形成了一幅相当有特征性的图景。出生时体型巨大,但成年后很少导致巨人症。肢端肥大症样面部畸形。脑病伴智力缺陷,无任何神经放射学异常。最后,内分泌检查和生长激素功能正常。到目前为止尚未发现病因。最令人满意的理论是下丘脑-垂体紊乱理论。治疗可以简单地避免成年后身高过高,其基础是使用性激素疗法来加速骨骼成熟。

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