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[一例器官样痣错构瘤病(施密尔彭宁-费尔斯坦-米姆斯综合征)的长期观察]

[Long-term observation of a case of organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome)].

作者信息

Schimmelpenning G W

出版信息

Rofo. 1983 Jul;139(1):63-7. doi: 10.1055/s-2008-1055841.

DOI:10.1055/s-2008-1055841
PMID:6409732
Abstract

The course of an organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) was observed in one patient over 25 years. Although the syndrome was fully developed, it has so far remained relatively benign, without limiting the patient's ability to work. During the course of the disease various investigations were carried out (CT, brain scintigrams, chromosome analysis). These confirm that the outstanding feature consisting of fibrous bone dysplasia of the skull continues to progress into adult life. In addition, the presence of intracerebral calcification could be demonstrated. Examination of the chromosomes suggests that further similar cases should also be examined, since the aetiology and pathogenesis of this phakomatosis are still unknown.

摘要

对一名患者的器官样痣错构瘤病(施密尔彭宁-费尔斯坦-米姆斯综合征)病程进行了25年的观察。尽管该综合征已充分发展,但迄今为止仍相对良性,未限制患者的工作能力。在疾病过程中进行了各种检查(CT、脑闪烁扫描、染色体分析)。这些检查证实,由颅骨纤维性骨发育异常构成的突出特征在成年后仍在继续发展。此外,还证实存在脑内钙化。染色体检查表明,由于这种错构瘤病的病因和发病机制仍不清楚,其他类似病例也应进行检查。

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