Multiple Lytic Bone Lesions Mimicking Langerhans Cell Histiocytosis: A Case of Infantile Mendelian Susceptibility to Mycobacterial Disease due to STAT1 Deficiency

Yingyi He; Hui Zhang; Chunjie Li; Xiaoling Su; Wenting Gan; Pengfei Wang; Weiqiang Xiao

doi:10.1093/ofid/ofac533

Multiple Lytic Bone Lesions Mimicking Langerhans Cell Histiocytosis: A Case of Infantile Mendelian Susceptibility to Mycobacterial Disease due to STAT1 Deficiency

Open Forum Infect Dis. 2022 Oct 11;9(11):ofac533. doi: 10.1093/ofid/ofac533. eCollection 2022 Nov.

Authors

Yingyi He¹, Hui Zhang¹, Chunjie Li¹, Xiaoling Su¹, Wenting Gan¹, Pengfei Wang¹, Weiqiang Xiao²

Affiliations

¹ Department of Pediatric Hematology & Oncology, Guangzhou Women and Children's Medical Center, Guangzhou , Guangdong, China.
² Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou , Guangdong, China.

Abstract

We present the first infantile disseminated Bacillus Calmette-Guérin (BCG) disease case with STAT1 deficiency, which is manifested by multiple Langerhans cell histiocytosis-like osteolytic lesions. The diagnosis of BCG-induced osteomyelitis was not initially considered until the additional biopsy revealing granulomatous inflammation, a key pathological diagnostic component for mycobacterial infection.

Keywords: Langerhans cell histiocytosis; STAT1 mutation; disseminated BCG disease; osteolytic lesions.