An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

BMC Pediatrics

Case Report

Sue Lyn Tan¹  Muhammad Ghazali bin Ahmad Narihan²  Ai Jiun Koa³ 

[1] Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Jalan Datuk Muhammad Musa, 94300, Kota Samarahan, Sarawak, Malaysia;Department of Paediatrics, Sarawak General Hospital, Jalan Hospital, 93586, Kuching, Sarawak, Malaysia;Department of Radiology, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Jalan Datuk Muhammad Musa, 94300, Kota Samarahan, Sarawak, Malaysia;

关键词: Hypertriglyceridemia;    Coffin-Lowry syndrome;    Intrauterine growth restriction;    Lipaemic plasma;   

DOI  :  10.1186/s12887-023-04376-5

 received in 2023-07-11, accepted in 2023-10-20,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundCoffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS.Case PresentationHerein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia.ConclusionsThe very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

12936_2017_2118_Article_IEq1.gif