An overlapping case of IgG4-related disease and klinefelter syndrome with lupus-like serological and neurological features: A case report and literature review

Satoshi Takanashi, Hironari Hanaoka, Yuichiro Ota, Yuko Kaneko, Tsutomu Takeuchi

Research output: Contribution to journalReview articlepeer-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.

Original languageEnglish
Pages (from-to)2601-2609
Number of pages9
JournalInternal Medicine
Volume59
Issue number20
DOIs
Publication statusPublished - 2020 Oct 15

Keywords

  • Autoimmune disease
  • Chromosomal disorder
  • IgG4-related disease
  • Klinefelter syndrome
  • Systemic lupus erythematosus

ASJC Scopus subject areas

  • Internal Medicine

Fingerprint Dive into the research topics of 'An overlapping case of IgG4-related disease and klinefelter syndrome with lupus-like serological and neurological features: A case report and literature review'. Together they form a unique fingerprint.

Cite this