A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity

Morota, Kazutaka; Tadokoro, Hiroaki; Sawano, Kentaro; Watanabe, Kenichi; Iwata, Naoko; Fujisawa, Haruki; Suzuki, Atsushi; Sugimura, Yoshihisa; Nagasaki, Keisuke

doi:10.1515/jpem-2021-0674

Cited by 5 publications

(1 citation statement)

References 11 publications

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“…Recently, it was reported that anti-rabphilin-3A antibodies can be used as diagnostic markers for LINH [9,11]. Among these, only a few pediatric cases have been reported [12,13]. All patients who presented with CDI were clinically diagnosed with LINH based on their symptoms and MRI findings, and showed positive serum anti-rabphilin-3A antibodies.…”

Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

et al. 2023

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Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and hypothalamus. LYH is subdivided into lymphocytic adenohypophysitis (LAH), lymphocytic infundibulo-neurohypophysitis (LINH), and lymphocytic panhypophysitis (LPH) depending on the primary site. Most cases occur in adults, with few cases reported in children, and it is especially important to distinguish LYH from suprasellar malignancies, such as germ cell tumors and other neoplastic diseases. Although a biopsy is necessary for definitive diagnosis, it is desirable to be able to diagnose the disease without biopsy if possible, especially in children, because of the surgical invasiveness of the procedure. Recently, serum anti-rabphilin-3A antibodies have attracted attention as diagnostic markers for LYH, especially in LINH, but there are only a few reports on pediatric patients. In the present study, we experienced two children with LPH and LAH, respectively, who tested positive for anti-rabphilin-3A antibodies. This is the first report of children with LYH other than LINH positive for anti-rabphilin-3A antibodies, and anti-rabphilin-3A antibodies may be a useful non-invasive diagnostic marker not only for LINH but also for LYH in general. We also discuss the sensitivity and specificity of anti-rabphilin-3A antibody testing in cases where histological diagnosis has been made.

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Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

et al. 2023

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Absence of anti–rabphilin-3A antibodies in children and young adults with idiopathic central diabetes insipidus: a potential clue to elucidating a tumor etiology

Fujisawa,

Takeuchi,

Ishii

et al. 2023

Hormones

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Background Central diabetes insipidus (CDI) is a rare condition caused by various underlying diseases, including neoplasms, autoimmune diseases, and infiltrative diseases. Differentiating between CDI etiologies is difficult. What has initially been classified as “idiopathic” central diabetes insipidus might in fact underlie various pathogenic mechanisms that are less understood to date and/or are not obvious at initial presentation. Therefore, even if idiopathic CDI is diagnosed at the time of onset, it is common for tumors such as germinoma to develop during surveillance. Crucially, a delayed diagnosis of germinoma may be associated with a worse prognosis. Recently, the presence of anti–rabphilin-3A antibodies has been found to be a highly sensitive and specific marker of lymphocytic infundibuloneurohypophysitis, an autoimmune-mediated CDI. Case presentation We herein present two cases, namely, a 13-year-old boy (patient 1) and a 19-year-old young man (patient 2) who were diagnosed with idiopathic CDI. In both patients, panhypopituitarism developed. Magnetic resonance imaging revealed pituitary stalk thickening and pituitary swelling approximately 1 1/2 years after the onset of CDI. Western blotting did not reveal the presence of anti-rabphilin-3A antibodies in serum in either patient, suggesting that autoimmune mechanisms might not be involved. Both patients were subsequently diagnosed with germinoma on pathological examination. They received chemotherapy, followed by radiation therapy. Notably, testosterone and insulin-like growth factor-1 levels normalized, and libido and beard growth recovered after chemoradiotherapy in patient 2. Conclusion Our data suggest that the absence of anti-rabphilin-3A antibodies in young patients clinically diagnosed with idiopathic CDI may increase the probability of the development of non-lymphocytic lesions, including germinoma. We thus recommend a more attentive approach at the onset of these diseases.

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A Rare Case of Central Diabetes Insipidus in a Pediatric Patient

Henriques,

M. Lopes,

Robalo

et al. 2024

Acta Med Port

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A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity

Cited by 5 publications

References 11 publications

Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

Absence of anti–rabphilin-3A antibodies in children and young adults with idiopathic central diabetes insipidus: a potential clue to elucidating a tumor etiology

A Rare Case of Central Diabetes Insipidus in a Pediatric Patient

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