IgG4-Related Disease Associated with Pearson Syndrome: A Case of Rapid Decline

Authors

Kai-Jing Zhang, Department of Hematology, Hangzhou Children's Hospital, Zhejiang University of Traditional Chinese Medicine, Hangzhou, ChinaFollow
Xiao-Juan Lv, Department of Hematology, Hangzhou Children's Hospital, Zhejiang University of Traditional Chinese Medicine, Hangzhou, China
Qin-Qin Zhao, Department of Pediatrics, Hangzhou Children's Hospital, Zhejiang University of Traditional Chinese Medicine, Hangzhou, China
Wan-Wan Xu, Department of Pediatrics, Hangzhou Children's Hospital, Zhejiang University of Traditional Chinese Medicine, Hangzhou, China

Abstract

We report a diagnostically challenging case of a 1-year-old female with refractory thrombocytopenia, sideroblastic anemia, pancreatitis and metabolic decompensation, ultimately attributed to coexisting IgG4-related disease (IgG4-RD) and Pearson syndrome (PS)—a previously undocumented association. Key findings of the case were 1. Treatment resistant thrombocytopenia despite IVIG, corticosteroids, and eltrombopag (transient response only). 2. Elevated IgG4 (840 μg/mL) and pancreatitis thought to be secondary to IgG4-RD. 3. Mitochondrial DNA deletion (m.10052_15604 del, 93.2% heteroplasmy) and ringed sideroblasts secondary to PS. 4. Fatal Metabolic Crisis with hyperlactatemia (peak 8.4 mmol/L) and cardiac failure, underscoring PS's rapid progression. This is the first reported association between IgG4-RD and PS, highlighting the need for dual-pathology evaluation in refractory cytopenia with metabolic disturbances.

Recommended Citation

Zhang, Kai-Jing; Lv, Xiao-Juan; Zhao, Qin-Qin; and Xu, Wan-Wan (2026) "IgG4-Related Disease Associated with Pearson Syndrome: A Case of Rapid Decline," Journal of Pediatric Infectious Diseases: Vol. 21: Iss. 1, Article 7.
DOI: https://doi.org/10.53391/1305-7707.1056
Available at: https://jpid.researchcommons.org/journal/vol21/iss1/7