Criscuolo Sabrina, Partenope Cristina, Tortora Mario, Arya Ved Bhushan, Albanese Assunta
Pediatric University Department, Bambino Gesù Children Hospital, Rome, Italy.
Pediatric Department, AOU Maggiore della Carità, Novara, Italy.
Horm Res Paediatr. 2025;98(3):266-273. doi: 10.1159/000538387. Epub 2024 Mar 15.
Paediatric brain tumours in the sellar-suprasellar region are often associated with arginine vasopressin peptide deficiency (AVPD), either at diagnosis caused by the tumour itself or during follow-up as a consequence of treatments. The purpose of this research was to retrospectively describe the neuroradiological characteristics and the timing of AVPD development in a cohort of paediatric patients with craniopharyngioma (CP) or germ cell tumours (GCTs).
We evaluated brain MRI at tumour diagnosis and at the onset of AVPD, as well as recorded clinical, endocrinological, and histopathological data, treatments, and outcome.
Seventy-two patients with AVPD were included: 46 CPs (M:F = 25:21) and 26 GCTs (M:F = 18:8). CPs were suprasellar (63%), sellar (4%), or both (33%). GCTs were suprasellar (65%), pineal (24%), or bifocal (11%). No statistically significant differences were noted in tumour size between CP and GCT. Posterior pituitary bright spot absence was reported at diagnosis or at follow-up (as surgery consequence) in all patients with AVPD, indicating that the absence of hyper-intensity is a cardinal feature of AVPD. When measurable, pituitary stalk was thickened in most GCT patients (61.5%). At AVPD diagnosis in GCT, the mean age was 11.9 years; 18 (69%) patients had AVPD at the time of tumour diagnosis, 5 (19.3%) before the diagnosis with a latency of 24.4 months (range 4-48), and 3 (11.5%) during follow-up (mean 24 months, range 4-60) due to tumour recurrence. GCT patients presented with severe endocrinological manifestations (18/26), headache and vomiting (10/26), visual impairment (5/26), and behavioural changes with fatigue (1/26). In CP, the mean age at AVPD diagnosis was 10.3 years; 7 (15.2%) patients had AVPD at time of tumour diagnosis, 37 (80.5%) developed it shortly after neurosurgery, and 2 patients (4.3%) after 2 and 4 months from surgery, respectively. Clinically, headache and visual abnormalities were the most frequent clinical symptoms at diagnosis of CP (39/46, 84.8%), with hydrocephalus (16/46, 35%) and displacement of optic chiasm (29/46, 63%) at the initial MRI. While the vast majority of CP patients (93%) received only surgery, all GCT patients received radiation therapy in addition to or instead of surgery.
An early differential diagnosis in children with AVPD and brain tumours is supported by a good understanding of the clinical features and imaging findings. Expert follow-up is necessary.
鞍区-鞍上区域的小儿脑肿瘤常与精氨酸加压素肽缺乏症（AVPD）相关，这可能在肿瘤诊断时由肿瘤本身引起，或在随访期间因治疗导致。本研究的目的是回顾性描述一组颅咽管瘤（CP）或生殖细胞肿瘤（GCT）小儿患者的神经放射学特征及AVPD发生的时间。
我们评估了肿瘤诊断时及AVPD出现时的脑部MRI，并记录了临床、内分泌、组织病理学数据、治疗情况及结果。
纳入72例患有AVPD的患者：46例CP（男：女 = 25：21）和26例GCT（男：女 = 18：8）。CP位于鞍上（63%）、鞍内（4%）或两者皆有（33%）。GCT位于鞍上（65%）、松果体区（24%）或双灶性（11%）。CP和GCT在肿瘤大小上未发现统计学显著差异。所有患有AVPD的患者在诊断时或随访期间（作为手术结果）均报告垂体后叶高信号消失，表明高信号缺失是AVPD的主要特征。在可测量时，大多数GCT患者（61.5%）垂体柄增粗。在GCT诊断为AVPD时，平均年龄为11.9岁；18例（69%）患者在肿瘤诊断时即有AVPD，5例（19.3%）在诊断前出现，潜伏期为24.4个月（范围4 - 48个月），3例（11.5%）在随访期间（平均24个月，范围4 - 60个月）因肿瘤复发出现。GCT患者表现出严重的内分泌表现（18/26）、头痛和呕吐（10/26）、视力障碍（5/26）以及伴有疲劳的行为改变（1/26）。在CP中，AVPD诊断时的平均年龄为10.3岁；7例（15.2%）患者在肿瘤诊断时即有AVPD，37例（80.5%）在神经外科手术后不久出现，2例患者分别在术后2个月和4个月出现（4.3%）。临床上，头痛和视觉异常是CP诊断时最常见的临床症状（39/46，84.8%），初始MRI显示脑积水（16/46，35%）和视交叉移位（29/46，63%）。虽然绝大多数CP患者（93%）仅接受了手术，但所有GCT患者除手术外或代替手术还接受了放射治疗。
对AVPD和脑肿瘤患儿进行早期鉴别诊断需要充分了解临床特征和影像学表现。专家随访是必要的。
