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迪格维-梅尔基奥尔-克劳森综合征罕见病例：一例报告

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.

作者信息

Chavan Sanjay, Chalipat Shiji, Verma Sarnya, Kumar Gaurav, Mane Shailaja

机构信息

Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

出版信息

Cureus. 2024 Sep 16;16(9):e69495. doi: 10.7759/cureus.69495. eCollection 2024 Sep.

DOI:10.7759/cureus.69495
PMID:39416591
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11483161/
Abstract

Dyggve-Melchior-Clausen (DMC) disease, also known as DMC syndrome, is a rare, progressive genetic disorder that is characterized by skeletal and intellectual abnormalities. The case report involves a four-year-old male child presenting with marked short stature, intellectual disability, coarse facies, and microcephaly. Initial investigations, including blood tests and radiological evaluations, prompted further genetic testing via whole-exome sequencing. This identified a homozygous mutation in the Dymeclin () gene, implicating DMC disease. The condition usually poses diagnostic challenges due to overlapping clinical features with Morquio syndrome. This case highlights the importance of a comprehensive diagnostic approach and genetic testing in elucidating the underlying genetic etiology of complex presentations in pediatric patients.

摘要

迪格维-梅尔基奥尔-克劳森（DMC）病，也称为DMC综合征，是一种罕见的进行性遗传性疾病，其特征为骨骼和智力异常。该病例报告涉及一名4岁男童，表现为明显身材矮小、智力残疾、面容粗糙和小头畸形。初步检查，包括血液检查和影像学评估，促使通过全外显子组测序进行进一步的基因检测。这在迪美克林（）基因中发现了一个纯合突变，提示为DMC病。由于与莫尔基奥综合征有重叠的临床特征，该病症通常带来诊断挑战。本病例突出了全面诊断方法和基因检测在阐明儿科患者复杂临床表现潜在遗传病因方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/623a83f202b8/cureus-0016-00000069495-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/9f46eea5777d/cureus-0016-00000069495-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/321ce2a60bc8/cureus-0016-00000069495-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/623a83f202b8/cureus-0016-00000069495-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/9f46eea5777d/cureus-0016-00000069495-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/321ce2a60bc8/cureus-0016-00000069495-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/353d/11483161/623a83f202b8/cureus-0016-00000069495-i03.jpg

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本文引用的文献

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Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets.黏多糖贮积症：糖胺聚糖蓄积的细胞后果和潜在靶点。
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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.Dymecin，即 Dyggve-Melchior-Clausen 综合征的致病基因，编码一种细胞外基质和高尔基体组织所必需的蛋白，与骨骼发育过程中关键的蛋白分泌途径相关。
Hum Mutat. 2011 Feb;32(2):231-9. doi: 10.1002/humu.21413.
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Morquio-Ullrich's Disease: An Inborn Error of Metabolism?莫尔基奥 - 乌尔里希病：一种先天性代谢缺陷病？
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Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.马罗托克斯型脊椎-干骺端发育不良（假性粘多糖贮积症 2 型）和副韧帯营养不良症是由 TRPV4 突变引起的。
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