Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders

Lu Pang; Jian Chen; Haiyan Yu; Haiming Huang; Bo Jin; Xin Wang; Haixia Li

doi:10.3389/fmed.2022.837253

Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders

Front Med (Lausanne). 2022 Mar 2:9:837253. doi: 10.3389/fmed.2022.837253. eCollection 2022.

Authors

Lu Pang¹, Jian Chen¹, Haiyan Yu¹, Haiming Huang¹, Bo Jin¹, Xin Wang², Haixia Li¹

Affiliations

¹ Department of Clinical Laboratory, Peking University First Hospital, Beijing, China.
² Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Abstract

In this research, we described a very rare case of thrombotic microangiopathy induced by remethylation disorders. A 16-year-old boy presented to the emergency department with 5 months of weakness and fatigue. He was diagnosed with thrombotic microangiopathy based on clinical manifestation and laboratory information, which showed microangiopathic hemolytic anemia, renal impairment, and thrombocytopenia. After a complex diagnostic workup, the metabolite screening parameters and sequencing results guided us toward the diagnosis of remethylation disorders. The patient was diagnosed with thrombotic microangiopathy induced by remethylation disorders (cblC).

Keywords: MMACHC; cblC; hemolytic uremic syndrome; remethylation disorders; schistocytes.

Publication types

Case Reports