Nakatani Hisae, Takasawa Kei, Kashimada Kenichi, Morimoto Akira, Oshiba Akihiro, Nagasawa Masayuki
Department of Pediatrics, Musashino Red Cross Hospital, Tokyo, Japan.
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Clin Pediatr Endocrinol. 2021;30(3):149-153. doi: 10.1297/cpe.30.149. Epub 2021 Jul 10.
A six-year-old boy was referred with a one-and-a-half months history of polyuria and polydipsia. At the age of two, he had a single lytic bone lesion in his femoral head, diagnosed as Langerhans cell histiocytosis (LCH) by biopsy at another hospital. As no other affected organs were detected and the affected bone lesion was self-limited, he was not followed up afterward and was doing well. He was diagnosed with diabetes insipidus (DI) by confirming hypernatremia (Na: 148 mEq/l) with hyperosmolar serum (s-Osm 298 mOSM/kg) and inappropriately diluted urine (u-Osm 205 mOSM/kg). His polyuria and polydipsia improved dramatically using the perioral diuretic hormone, and other pituitary functions were not impaired. Magnetic resonance imaging revealed an enlarged pituitary stalk. Sensitive and specific biomarkers of germ cell tumors, including alpha-fetoprotein, placental alkaline phosphatase, and β-hCG in the cerebrospinal fluid, were not detected, indicating relapse of LCH. Genetic analysis revealed a BRAF V600E mutation in the primary bone lesion. We recommend systematic follow-up of patients with a history of LCH, even non-CNS single-system single-site disease, especially with BRAF V600E mutation.
一名六岁男孩因多尿和烦渴症状持续一个半月前来就诊。他两岁时，股骨头出现一处溶骨性骨病变，在另一家医院经活检诊断为朗格汉斯细胞组织细胞增多症（LCH）。由于未检测到其他受累器官，且受累骨病变为自限性，此后他未接受随访，情况良好。通过确认高钠血症（钠：148 mEq/l）、高渗血清（血清渗透压298 mOSM/kg）以及尿液稀释不当（尿渗透压205 mOSM/kg），他被诊断为尿崩症（DI）。使用经口利尿剂激素后，他的多尿和烦渴症状显著改善，且其他垂体功能未受损。磁共振成像显示垂体柄增粗。脑脊液中未检测到生殖细胞肿瘤的敏感且特异的生物标志物，包括甲胎蛋白、胎盘碱性磷酸酶和β - 人绒毛膜促性腺激素，提示LCH复发。基因分析显示原发性骨病变存在BRAF V600E突变。我们建议对有LCH病史的患者进行系统随访，即使是非中枢神经系统单系统单部位疾病，尤其是存在BRAF V600E突变的患者。
