Aika Shoo, Evance Godfrey, Deogratius Mally, Yasser Said, Mary Dealmeida, Kandi Muze, Namala Mkopi
{"title":"Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.","authors":"Aika Shoo, Evance Godfrey, Deogratius Mally, Yasser Said, Mary Dealmeida, Kandi Muze, Namala Mkopi","doi":"10.11604/pamj.2024.49.33.42418","DOIUrl":null,"url":null,"abstract":"<p><p>Hyper immunoglobulin M (IgM) syndromes are a collection of uncommon primary combined immunodeficiency disorders. They are characterized by recurrent bacterial infections due to low levels of IgG, IgA, and IgE, while IgM levels remain normal or high. These conditions stem from a mutation in the CD40 ligand gene or disruptions in the CD40-signaling pathway. Those affected face increased susceptibility to frequent bacterial infections, an elevated likelihood of autoimmune issues, and early-onset malignancies. These syndromes are rare and account for a small fraction of immunodeficiency cases. We describe a case of an African infant, who had a prolonged pediatric intensive care unit admission due to recurrent and severe infections which took a prolonged course of medication to be treated. After a diagnostic workup, a diagnosis of X-linked hyper IgM syndrome was established, and currently, our child is on monthly replacement of IV immunoglobulin and daily prophylactic cotrimoxazole tablets. Early diagnosis of primary immunodeficiency disorders reduces the incidence of infections and the severity of complications. This case demonstrates the consequences of delayed diagnosis and resulting in a prolonged hospital stay.</p>","PeriodicalId":48190,"journal":{"name":"Pan African Medical Journal","volume":"49 ","pages":"33"},"PeriodicalIF":0.9000,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781210/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pan African Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11604/pamj.2024.49.33.42418","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}
Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.
Hyper immunoglobulin M (IgM) syndromes are a collection of uncommon primary combined immunodeficiency disorders. They are characterized by recurrent bacterial infections due to low levels of IgG, IgA, and IgE, while IgM levels remain normal or high. These conditions stem from a mutation in the CD40 ligand gene or disruptions in the CD40-signaling pathway. Those affected face increased susceptibility to frequent bacterial infections, an elevated likelihood of autoimmune issues, and early-onset malignancies. These syndromes are rare and account for a small fraction of immunodeficiency cases. We describe a case of an African infant, who had a prolonged pediatric intensive care unit admission due to recurrent and severe infections which took a prolonged course of medication to be treated. After a diagnostic workup, a diagnosis of X-linked hyper IgM syndrome was established, and currently, our child is on monthly replacement of IV immunoglobulin and daily prophylactic cotrimoxazole tablets. Early diagnosis of primary immunodeficiency disorders reduces the incidence of infections and the severity of complications. This case demonstrates the consequences of delayed diagnosis and resulting in a prolonged hospital stay.