马歇尔-史密斯综合征：新进展

Marshall-Smith syndrome: new aspects.

作者信息

Roodhooft A M, Van Acker K J, Van Thienen M N, Martin J J, Ceuterick C

机构信息

Department of Pediatrics, University Hospital, University of Antwerp, Belgium.

出版信息

Neuropediatrics. 1988 Nov;19(4):179-82. doi: 10.1055/s-2008-1052441.

DOI:10.1055/s-2008-1052441

PMID:3205374

Abstract

A 4-year-old girl with the Marshall-Smith syndrome (MSS) is described. A muscle biopsy was performed because of hypotonia and muscular weakness. Selective hypoplasia of type IIa and IIb fibers was found. Additional not previously reported findings in this girl were a partial growth hormone deficiency, a partial villous atrophy of the small bowel and a pronounced dicarboxylic aciduria. The significance of these findings in MSS is not clear and the results of similar investigations in other MSS patients have to be awaited.

摘要

本文描述了一名患有马歇尔 - 史密斯综合征（MSS）的4岁女孩。因肌张力减退和肌肉无力进行了肌肉活检，发现Ⅱa型和Ⅱb型纤维选择性发育不全。该女孩还有此前未报道的其他发现，包括部分生长激素缺乏、小肠部分绒毛萎缩和明显的二羧酸尿症。这些发现在MSS中的意义尚不清楚，有待观察其他MSS患者的类似研究结果。