Pharmacogenomics and Personalized Medicine (Oct 2022)
Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review
Abstract
Hang Yu,1,* Wenwei Zhao,2,* Yongqing Ni,1,* Linlin Li1,* 1Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, 010030, People’s Republic of China; 2Office of the Director, Hohhot People’s Mediation Committee for medical Disputes, Hohhot, Inner Mongolia Autonomous Region, 010030, People’s Republic of China*These authors contributed equally to this workCorrespondence: Linlin Li, Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, No. 1 Tongdao North Road, Hohhot, Inner Mongolia Autonomous Region, 010030, People’s Republic of China, Tel +86 13848185400, Email [email protected]: Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS).Methods: The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome.Results: The patient, female, age 1 month 24 days, with ventricular arrhythmia as the first manifestation, accompanied by growth retardation, liver damage, and persistent decrease in peripheral blood neutrophil count ( C homozygous variation.Conclusion: Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment.Keywords: Shwachman diamond syndrome, arrhythmia, case report
