-Case Reports-

Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly

Tae Matsumoto¹, Takeshi Yanagihara², Kaoru Yoshizaki², Masami Tsuchiya¹, Mika Terasaki³, Kiyotaka Nagahama^3,*, Akira Shimizu³, Shinji Kunishima^4,** and Miho Maeda¹

¹Department of Pediatrics, Nippon Medical School Tama Nagayama Hospital, Tokyo, Japan
²Department of Pediatrics, Nippon Medical School Musashikosugi Hospital, Kanagawa, Japan
³Department of Analytic Human Pathology, Graduate School of Medicne, Nippon Medical School, Tokyo, Japan
⁴Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
^�– Present address: Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan
^�–�–Present address: Department of Medical Technology Gifu University of Medical Science, Gifu, Japan

The May-Hegglin anomaly is characterized by inherited thrombocytopenia, giant platelets, and leukocyte cytoplasmic inclusion bodies. The Fechtner, Sebastian, and Epstein syndromes are associated with mutations of the MYH9-coding nonmuscle myosin heavy chain IIA, similar to the May-Hegglin anomaly, and are together classified as MYH9 disorders. MYH9 disorders may include symptoms of Alport syndrome, including nephritis and auditory and ocular disorders. A 6-year-old boy was diagnosed with an MYH9 disorder after incidental discovery of hematuria and proteinuria. Focal segmental glomerulosclerosis was detected on renal biopsy. However, despite no prior bleeding diatheses, he developed a large post-biopsy hematoma despite a preprocedural platelet transfusion calculated to increase the platelet count from 54,000/μL to >150,000/μL. Idiopathic thrombocytopenic purpura is a major cause of pediatric thrombocytopenia following acute infection or vaccination, and patients with MYH9 disorders may be misdiagnosed with idiopathic thrombocytopenic purpura and inappropriately treated with corticosteroids. Careful differential diagnosis is important in thrombocytopenic patients with hematuria and proteinuria for the early detection of thrombocytopenia. Patients with MYH9 disorders require close follow-up and treatment with angiotensin II receptor blockers to prevent the onset of progressive nephritis, which may necessitate hemodialysis or renal transplantation. The need for renal biopsy in patients with MYH9 disorders should be carefully considered because there could be adverse outcomes even after platelet transfusion.

J Nippon Med Sch 2021; 88: 579-584

Keywords
MYH9 related disease, May-Hegglin anomaly, focal segmental glomerulosclerosis, puncture biopsy, thrombocytopenia

Correspondence to
Tae Matsumoto, Department of Pediatrics, Nippon Medical School Tama Nagayama Hospital, 1-7-1 Nagayama, Tama-city, Tokyo 206-8512, Japan
tae@nms.ac.jp

Received, September 4, 2020
Accepted, December 11, 2020