J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-95866 | DOI: 10.4274/jcrpe.galenos.2023.2023-5-7

Lymphocytic Infundibuloneurohypophysitis Diagnosis Owing to Positive Anti-rabphilin-3A Antibody Test Result in an 8-year-old Boy with Early-onset Central Diabetes Ýnsipidus

Yukino Shoji¹, Yuki Naruse¹, Naoko Iwata², Haruki Fujisawa³, Atsushi Suzuki³, Yoshihisa Sugimura³, Masato Mori¹, Ryugo Hiramoto^1
1Department of Pediatrics, Matsudo City General Hospital, Chiba, Japan
²Department of Endocrinology and Diabetes, Daido Hospital, Japan
³Department of Endocrinology and Diabetes, Fujita Health University, Japan

Childhood-onset lymphocytic infundibuloneurohypophysitis (LINH) has rarely been reported. Pathological evaluation via pituitary biopsy is necessary for a definitive diagnosis of LINH. However, pituitary biopsy is a highly invasive procedure. Recently, anti-rabphilin-3A antibody (RPH3A-Ab) has been reported as a promising diagnostic marker for LINH in adults; however, there are few such reports in the pediatric population. We report the case of an 8-year-old boy with central diabetes insipidus (CDI) who was clinically diagnosed with LINH based on RPH3A-Ab positivity. He was diagnosed with CDI using a water deprivation test combined with desmopressin administration. Serum and cerebrospinal fluid tumor markers were negative, and T1-weighted magnetic resonance imaging (MRI) revealed the absence of high signal intensity in the posterior pituitary gland and an enlarged pituitary stalk. Anterior pituitary function tests revealed no abnormalities. No pituitary biopsy was performed because of its invasive nature, and desmopressin treatment was initiated. Three months after CDI onset, the patient tested positive for RPH3A-Ab. MRI performed 9 months after CDI onset revealed amelioration of the pituitary stalk enlargement, and the clinical course corroborated our diagnosis of LINH. RPH3A-Ab may be useful as an early diagnostic tool for LINH in the pediatric population.

Keywords: Central diabetes insipidus, lymphocytic infundibuloneurohypophysitis，, rabphilin-3A antibody， lymphocytic hypophysitis, pituitary

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