儿童半乳糖血症的不寻常表现：肌肉骨骼表现

Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations.

作者信息

Gorial Faiq I, Mohammed Maab Jasim

机构信息

Rheumatology Unit, Department of Medicine, College of Medicine, University of Baghdad, Baghdad, Iraq.

Rheumatology Unit, Baghdad Teaching Hospital, Baghdad, Iraq.

出版信息

Mediterr J Rheumatol. 2019 Jun 29;30(2):123-124. doi: 10.31138/mjr.30.2.123. eCollection 2019 Jun.

DOI:10.31138/mjr.30.2.123

PMID:32185352

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7045964/

Abstract

Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density.

摘要

半乳糖血症是一种常染色体隐性遗传的半乳糖代谢疾病。在本报告中，呈现了一例表现异常的半乳糖血症病例。我们报告了一名患有半乳糖血症的男童，其出现关节痛、手部畸形和骨密度降低的症状。