Preoperative use of platelets in a 6‐year‐old with acute appendicitis and a myosin heavy chain 9–related disorder: a case report and review of literature
TRANSFUSION(2016)
Abstract
BACKGROUNDMutations of nonmuscle myosin heavy chain 9 (MYH9) gene are an autosomal dominant cause of inherited thrombocytopenia in children. MYH9 spectrum disorders include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. Patients with these disorders often present with macroplatelets and thrombocytopenia and have a mild bleeding tendency; extrahematologic manifestations (nephropathy, deafness, and cataracts) correlate with specific mutations. No definitive guidelines exist for preoperative prophylactic platelet (PLT) transfusion in these patients. STUDY DESIGN AND METHODSThis was a case study and literature review. RESULTSA 6-year-old male presented with appendicitis. Review of records revealed that he and his siblings had thrombocytopenia; polymerase chain reaction amplification with DNA sequence analysis showed a variation in the MYH9 gene previously reported as a known cause of MYH9-related disorders. Involvement of other organ systems was not found on initial work-up. The patient's PLT count on admission was 20 x 10(9)/L. The degree of thrombocytopenia prompted transfusion of apheresis PLTs and he had good response (73 x 10(9)/L). After infusion he developed hives, rash, itching, and nausea, which resolved after administration of epinephrine and hydrocortisone. Transfusion reaction work-up was negative and symptoms were interpreted as an allergic reaction. The appendectomy was uneventful. CONCLUSIONThis patient's PLT count was within guidelines to warrant transfusion; however, some patients with MYH9 mutations have counts above the transfusion threshold. To the authors' knowledge, there are no set guidelines for preoperative prophylaxis in a patient with an MYH9 deficiency. The management of the bleeding diathesis in these patients, especially in the setting of invasive procedures, is uncertain.
MoreTranslated text
Key words
bioinformatics,biomedical research
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined