Journal of pediatric endocrinology & metabolism : JPEM · 2022
A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Morota Kazutaka, Tadokoro Hiroaki, Sawano Kentaro, Watanabe Kenichi, Iwata Naoko, Fujisawa Haruki, Suzuki Atsushi, Sugimura Yoshihisa, Nagasaki Keisuke
Аннотация
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.
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.