Background

Craniopharyngiomas (CPs) are rare embryonic tumors. Clinical presentation and outcome of patients perinatally diagnosed with congenital CP (cCP) are not clear and refer mainly to a few case reports in the literature. The aim of this study was to analyze clinical presentation and outcome in patients with cCP.

Study design

Three hundred and sixty-one patients diagnosed with adamantinomatous CP were recruited 2007–2022 in KRANIOPHARYNGEOM 2007/Registry 2019 and prospectively observed. In two cases, cCP was diagnosed prenatally and in one case on the second day of life. Pre- and perinatal diagnostic findings, postnatal evaluation, and therapeutic interventions and outcome in these three cases of cCP were analyzed.

Results

All patients survived. One patient developed psychomotor retardation and a mild hemiparesis. Prenatal routine ultrasound examination led to the diagnosis of cCP. Tumor resection was performed during the early postnatal period (range: 11–51 days of age). Functional capacity, measured by Fertigkeitenskala-Münster-Heidelberg (FMH) was reduced in three and behavioral parameters, measured by the Strength and Difficulties Questionnaire (SDQ) were abnormal in two cases.

Conclusion

cCP is a rare diagnosis with a prevalence of 0.83% in our study group. Compared to cases reported in the literature, the presented cases were treated immediately and had a better prognosis. Based on improvements of diagnostic and therapeutic techniques, prenatal diagnosis of cCP should lead to transfer prior to delivery of cCP patients to a specialized center for delivery and postnatal treatment of newborns with sellar masses by a multidisciplinary team to secure the improved prognosis of these patients.

Significance statement

We previously reported that lower event-free survival rates after craniopharyngioma are associated with younger age at diagnosis. Perinatally diagnosed congenital craniopharyngiomas are very rare. This article presents three unique cases with congenital craniopharyngioma, comparing their diagnostics, therapy, and development. All three cases had surgery during the early postnatal period with sparing of the posterior hypothalamus. In each case, endocrinopathy was present at follow-up. Low functional capacity was reported in all cases and an abnormal total difficulties score in two cases. Compared to the literature, the presented cases had better prognosis in morbidity and mortality. This report and the review of the literature confirm the importance of a multidisciplinary approach in the diagnostic and treatment of the very rare condition of congenital craniopharyngioma.

中文翻译：

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KRANIOPHARYNGEOM 试验中围产期诊断的先天性颅咽管瘤

背景

颅咽管瘤（CP）是罕见的胚胎肿瘤。围产期诊断为先天性 CP（cCP）的患者的临床表现和结局尚不明确，主要参考文献中的少数病例报告。本研究的目的是分析 cCP 患者的临床表现和结果。

学习规划

KRANIOPHARYNGEOM 2007/Registry 2019 于 2007 年至 2022 年招募了 361 名诊断为金刚细胞性 CP 的患者并进行前瞻性观察。两例 cCP 在产前被诊断出来，一例在出生后第二天被诊断出来。对这三例 cCP 病例的产前和围产期诊断结果、产后评估以及治疗干预和结果进行了分析。

结果

所有患者均存活。一名患者出现精神运动迟缓和轻度偏瘫。产前常规超声检查诊断为 cCP。肿瘤切除在产后早期（范围：11-51 天）进行。通过 Fertigkeitenskala-Münster-Heidelberg (FMH) 测量的功能能力在 3 个案例中降低，通过强度和难度问卷 (SDQ) 测量的行为参数在 2 个案例中异常。

结论

cCP 是一种罕见的诊断，在我们的研究组中患病率为 0.83%。与文献报道的病例相比，所报道的病例均得到立即治疗，预后较好。基于诊断和治疗技术的改进，cCP产前诊断应导致cCP患者在分娩前转至专门的中心，由多学科团队对鞍区肿块新生儿进行分娩和产后治疗，以确保改善这些患者的预后。

意义陈述

我们之前报道过，颅咽管瘤术后无事件生存率较低与诊断时年龄较小有关。围产期诊断的先天性颅咽管瘤非常罕见。本文介绍了三个独特的先天性颅咽管瘤病例，比较了它们的诊断、治疗和发展。所有三例病例均在产后早期接受了手术，保留了下丘脑后部。在每个病例中，随访时均出现内分泌疾病。所有病例均报告功能能力低下，其中两例总困难评分异常。与文献相比，所呈现的病例在发病率和死亡率方面具有更好的预后。本报告和文献综述证实了多学科方法在诊断和治疗非常罕见的先天性颅咽管瘤的重要性。