以婴儿期假性麻痹表现的婴儿全身性透明质病6例分析。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-09-01 DOI:10.1055/s-0041-1736558
Vykuntaraju K Gowda, Sahana M Srinivas, Priya Gupta, Varunvenkat M Srinivasan, Sanjay K Shivappa, Gurudatta B Vishwanathan
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引用次数: 0

摘要

婴儿全身性透明质病是一种非常罕见的致命性常染色体隐性遗传病,毛细血管形态发生基因-2- CMG2 /人炭疽毒素-2 ANTXR2突变导致梭形细胞增殖,胶原代谢改变以及透明质物质在皮肤和一些组织中的广泛沉积。迄今为止,文献中仅报道了少数病例,因此我们报道了本系列。本研究是对印度南部一家三级儿童医院2015年1月至2020年12月诊断为婴儿全身性透明质病的婴儿进行回顾性图表回顾。平均发病年龄9.4个月,男女比例为1:5。除了一个孩子外,所有的孩子都是近亲结婚生的。所有患儿出生时均有症状,肢体运动疼痛,多关节僵硬,牙龈增厚,肛周、口周周围皮肤病变,体位呈蛙状。3例(50%)患儿皮肤僵硬。常规检查包括全血细胞计数、肝功能检查、肾功能检查、肌酸磷酸激酶、神经传导检查和代谢检查均正常。皮肤活检显示真皮内有透明胶原组织。2例病例的遗传分析结果显示ANTXR2基因存在致病性变异。出现肢体运动疼痛的婴儿应考虑为婴儿全身性透明质病。诊断有助于避免不必要的调查和预测。先证者突变的遗传信息有助于两个家庭的产前诊断。
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Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases.

Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2- CMG2 /Human anthrax toxin-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in ANTXR2 gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.

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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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