Case report: The masquerading spectrum: a pediatric case series of IgG4-related disease

IgG4-related disease (IgG4-RD) is a rare fibro-inflammatory condition with scarce data on its clinical spectrum and management in the pediatric population.We present a single-center observational study of six children with clinically and morphologically confirmed IgG4-RD. We analyzed the age of onset, time to diagnosis, and comprehensive clinical, imaging, laboratory, and histopathological findings at presentation and during follow-up (range: 3 months to 7 years).

The 2020 revised comprehensive diagnostic criteria for IgG4-RD were used. The diagnosis was based on a biopsy of orbital tissue with detection of signs of fibrosis, obliterating phlebitis, and subsequent immunohistochemical testing for the presence of IgG4.

The disease manifested itself in 4 patients with orbital pseudotumor, in 1 patient with diabetes insipidus, in 1 patient with fever, signs of high inflammatory and immunological activity. The diagnostic delay ranged from 3 to 12 months.

Treatment regimens included glucocorticoids combined with cytostatic agents (n=3), cytostatic monotherapy (n=2), and initial glucocorticoid monotherapy (n=1). Three patients achieved a good clinical and radiological response without disease progression.