Idiopathic hypothalamic diabetes insipidus, pituitary stalk thickening, and the occult intracranial germinoma in children and adolescents
Idiopathic hypothalamic diabetes insipidus, pituitary stalk thickening, and the occult intracranial germinoma in children and adolescents
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DOI：
10.1210/jc.82.5.1362
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发表时间：
1997-05-01
影响因子：
5.8
通讯作者：
Conte, FA
中科院分区：
文献类型：
--
作者：
Mootha, SL;Barkovich, AJ;Conte, FA
我们报告连续9名儿童和青少年(5名女性和4名男性；年龄2岁8个月至18岁)在过去5年中研究了特发性中枢性尿崩症。除了加压素缺乏外，还发现了垂体前叶激素缺乏，无论是在表现时的评估上还是在随后3年的随访研究中都是如此。4例患者血浆催乳素浓度升高。一名患者在确诊时有多种垂体激素缺乏症，另外两名患者在21米的随访中出现了相同的情况。在9名患者中，有4名患者的脑磁共振图扫描最初被认为是正常的，但没有明亮的垂体后叶信号；经过回顾，9名患者中有2名被认为是正常的。所有的脑部磁共振成像(MRI)扫描在14m的随访中均显示阳性结果。所有患者的首发异常表现为孤立性垂体柄增厚。8例患者中有3例脑脊液hCG检测阳性，这3例脑脊液hCG检测均在入院时、入院后3个月和9个月后发现。所有评估的8名患者的脑脊液甲胎蛋白和细胞学检查均为阴性，没有患者有血清肿瘤标志物。9例患者中有7例经蝶骨活检发现6例生殖细胞瘤和1例炎性细胞瘤。记录在案的6名生殖细胞瘤患者占过去5年在加州大学旧金山分校这个年龄段确诊的颅内生殖细胞瘤的31%。接受活检的单核炎性细胞患者和另一名患者的柄增厚已自发消退。所谓的“特发性”中枢性尿崩症需要密切随访以确定病因，特别是在检测到垂体前叶激素缺乏的情况下。正常的脑部MRI扫描或扫描显示孤立的垂体柄增厚值得后续的系列增强脑MRI检查，以早期发现正在演变的隐匿性下丘脑柄病变。建议在发病时进行脑脊液检查，因为升高的脑脊液hCG可能先于MRI异常。
We report nine consecutive children and adolescents [five females and four males; aged 2 yr 8 months (m) to 18 yr I m] studied over the last 5 yr with idiopathic central diabetes insipidus. In addition to vasopressin deficiency, anterior pituitary hormone deficiencies were detected, either on evaluation at presentation or during follow-up studies over the following 3 yr. Four patients had an increased concentration of plasma PRL. One patient had multiple pituitary hormone deficiencies at diagnosis, and two others developed the same by 21 m of follow-up. Brain magnestic resonance imaging scans, performed at presentation, were originally interpreted as normal in four of nine patients, except for absence of the bright posterior pituitary signal; after retrospective review, two of nine were considered normal. All of the brain magnetic resonance imaging (MRI) scans showed positive findings by 14 m of follow-up. The first abnormal finding in all patients was isolated pituitary stalk thickening. Evaluation of cerebrospinal fluid (CSF) for hCG was positive in three of eight evaluated patients; the three positive CSF values were found at presentation and 3 and 9 m after presentation. All eight patients assessed were negative for CSF a-fetoprotein and cytology, and no patient had serum tumor markers. Transsphenoidal biopsy of the lesion in seven of nine patients showed a germinoma in six patients and inflammatory cells in one. The six patients with documented germinoma comprise 31% of the intracranial germinomas diagnosed in this age group at the University of California-San Francisco during the last 5 yr. The patient with mononuclear inflammatory cells on biopsy along with one other patient have had spontaneous resolution of their stalk thickening. So-called ''idiopathic'' central diabetes insipidus warrants close follow-up to determine the etiology, especially if anterior pituitary hormone deficiencies are detected. Normal brain MRI scans or scans that show isolated pituitary stalk thickening merit follow-up with serial contrast enhanced brain MRI for the early detection of an evolving occult hypothalamic-stalk lesion. CSF evaluation is recommended at presentation because elevated CSF hCG may precede MRI abnormalities.