An Overlapping Case of IgG4-related Disease and Klinefelter Syndrome with Lupus-like Serological and Neurological Features: A Case Report and Literature Review.

Abstract

A 46-year-old man with Klinefelter syndrome (KS) presented with obliterative phlebitis of the lower legs with a deteriorated renal function, and elevated serum alkaline phosphatase and ataxia levels. Examinations demonstrated tubulointerstitial nephritis, obliterative phlebitis and lymphadenopathy with IgG4+ plasma cell infiltrate and sclerosing cholangitis. Although the serological profile and central nerve system involvement were compatible for systemic lupus erythematosus (SLE), a definite diagnosis of SLE was difficult to make. IgG4-related disease (IgG4-RD) with KS was finally diagnosed, and high dose prednisolone with intravenous cyclophosphamide was initiated and thereafter the patient demonstrated a prompt improvement. This is the first known case demonstrating overlapping IgG4-RD with lupus-like serological and neurological features in a patient with KS, thus highlighting the pathogenic role with the genomic background for IgG4-RD and SLE.

• Authors: Satoshi Takanashi, Hironari Hanaoka, Yuichiro Ota, Yuko Kaneko, Tsutomu Takeuchi
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 59 Issue 20 Pg. 2601-2609 (Oct 15 2020) ISSN: 1349-7235 [Electronic] Japan
• PMID: 32581168 (Publication Type: Case Reports, Journal Article)

Chemical References

• Immunoglobulin G

Topics

• Diagnosis, Differential
• Humans
• Immunoglobulin G (blood)
• Immunoglobulin G4-Related Disease (complications, diagnosis)
• Klinefelter Syndrome (complications)
• Lupus Erythematosus, Systemic (diagnosis)
• Male
• Middle Aged