Abstract
Objectives
A highly invasive pathological diagnosis is necessary to differentiate central diabetes insipidus (CDI) with a thickened pituitary stalk. Lymphocytic infundibulo-hypophysitis (LIH) due to autoimmune involvement of the pituitary stalk is a differentiating disease, and anti-rabphilin-3A antibody (Rab3A-Ab) positivity was recently reported.
Case presentation
A 7-year-old boy was diagnosed with CDI after having polyuria for two months. He showed growth hormone deficiency with reduced growth rate. Brain magnetic resonance imaging (MRI) revealed a thickened pituitary stalk. The placental alkaline phosphatase level of the cerebrospinal fluid, tumor marker for germ cell tumors, was below the level of sensitivity. No skin or bone findings suggestive of Langerhans cell histiocytosis were detected. Eight months after CDI onset, Rab3A-Ab was positive, and MRI showed shrinking of the thickened pituitary stalk, leading to the diagnosis with LIH.
Conclusions
Rab3A-Ab is a useful adjunctive diagnostic tool for childhood-onset LIH.
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Research funding: None declared.
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Author contributions: K.N. and K.M. wrote the original draft and reviewed and revised the manuscript. H.T., S.S., and K.W. collected the data and reviewed the manuscript. Y.S. measured the rabphilin-3A antibody and reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Written consent was obtained from our patient’s parents to present the details of his medical case and any accompanying images.
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Ethical approval: This study was approved by the Institutional Ethics Review Board Committee of Nagaoka Red Cross Hospital (Niigata, Japan), approval number 210716.
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