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科赫尔-德布雷-塞梅拉涅综合征：甲状腺功能减退性肌肉假性肥大——两例罕见报告

Kocher-debre-semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases.

作者信息

Shaw Chandan, Shaw Prachi

机构信息

Department of Pediatrics, Sri Manakula Vinayagar Medical College and Hospital, Kalitheerthalkuppam, Madagadipet, Pondicherry 605 107, India.

出版信息

Case Rep Endocrinol. 2012;2012:153143. doi: 10.1155/2012/153143. Epub 2012 Mar 12.

DOI:10.1155/2012/153143
PMID:22934196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3420572/
Abstract

Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. It may be confused with primary muscle disorders, lest one is cautious enough to investigate for hypothyroidism. The striking clinical features, availability of a simple treatment and a good prognosis for the condition makes it worthwhile to report the case so that all practitioners be aware of the condition and its management.

摘要

科赫尔-德布雷-塞梅拉涅综合征（KDSS）是小儿年龄组中肌肉假性肥大与长期中度至重度甲状腺功能减退症的罕见关联。它可能会与原发性肌肉疾病相混淆，除非有人足够谨慎去检查是否存在甲状腺功能减退症。该病症显著的临床特征、简单治疗方法的可用性以及良好的预后，使得报告此病例很有价值，以便所有从业者都能了解该病症及其管理方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/5a9a7e93c4f3/CRIM.ENDOCRINOLOGY2012-153143.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/437c52a8d32f/CRIM.ENDOCRINOLOGY2012-153143.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/a710d2267a6c/CRIM.ENDOCRINOLOGY2012-153143.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/dbad39fd36ad/CRIM.ENDOCRINOLOGY2012-153143.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/5a9a7e93c4f3/CRIM.ENDOCRINOLOGY2012-153143.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/437c52a8d32f/CRIM.ENDOCRINOLOGY2012-153143.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/a710d2267a6c/CRIM.ENDOCRINOLOGY2012-153143.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/dbad39fd36ad/CRIM.ENDOCRINOLOGY2012-153143.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/badc/3420572/5a9a7e93c4f3/CRIM.ENDOCRINOLOGY2012-153143.004.jpg

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Primary congenital hypothyroidism: clinical characteristics and etiological study.原发性先天性甲状腺功能减退症：临床特征及病因学研究
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Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy.科赫尔-德布雷-塞梅拉涅综合征：伴有肌肉假性肥大的甲状腺功能减退症。
Indian J Pediatr. 2003 Aug;70(8):671-3. doi: 10.1007/BF02724260.
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范·怀克-格伦巴赫综合征合并科赫尔-德布勒-塞梅拉涅综合征：罕见关联病例报告
Eur Thyroid J. 2017 Feb;6(1):47-51. doi: 10.1159/000448993. Epub 2016 Oct 4.
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Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.甲状腺功能减退性肌病：甲状腺功能衰竭的一种特殊临床表现。文献复习。
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Kocher Debre Semelaigne syndrome mimicking primary muscle disease.模仿原发性肌肉疾病的科赫尔-德布雷-塞梅拉涅综合征。
Indian Pediatr. 1990 Jan;27(1):88-9.