SIADH作为一种罕见的嗅觉神经母细胞瘤的表现:基于病例的概述。

Endocrine oncology (Bristol, England) Pub Date : 2025-07-07 eCollection Date: 2025-01-01 DOI:10.1530/EO-25-0021
Solene Papart, Adrian F Daly, Elettra Bianchi, Alexandre Jadoul, Gilles Reuter, Olivier Bouchain, Patrick Pétrossians, Albert Beckers
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引用次数: 0

摘要

背景:嗅神经母细胞瘤(ONB)是一种罕见的恶性神经外胚层肿瘤,通常发生在鼻腔,典型表现为单侧鼻塞和鼻出血。在极少数情况下,ONB可以表现为抗利尿激素(SIADH)分泌不当的副肿瘤综合征,导致低钠血症。病例描述:我们描述了一名42岁的女性,她有4年的周期性症状性低钠血症史,其特征是间歇性发作的头晕、严重的头痛和明显的疲劳,最初没有明显的鼻或耳鼻喉症状。调查证实了SIADH,但反复成像(包括胸部CT和FDG PET-CT)未能确定来源。最终,68Ga-DOTANOC PET-CT显示左侧筛区有孤立病变。经内窥镜手术切除确诊为Hyams 1级ONB。肿瘤完全切除后,患者的低钠血症得到缓解。文献综述:ONB说明结论:本病例强调了在不明原因SIADH患者中考虑ONB的重要性,特别是在初步调查尚无定论的情况下。它还强调了68Ga-DOTANOC PET-CT在检测隐匿性神经内分泌肿瘤方面的效用,并强调了及时手术干预对最终治疗的价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
SIADH as an uncommon presentation of olfactory neuroblastoma: a case-based overview.

Background: Olfactory neuroblastoma (ONB) is a rare malignant neuroectodermal tumour that usually arises in the nasal cavity, typically presenting with unilateral nasal obstruction and epistaxis. In rare instances, ONB can manifest as a paraneoplastic syndrome of inappropriate antidiuretic hormone (SIADH) secretion, leading to hyponatraemia.

Case presentation: We describe a 42-year-old woman with a 4-year history of cyclical, symptomatic hyponatraemia characterised by intermittent episodes of dizziness, severe headaches and marked fatigue, initially without overt nasal or otolaryngological symptoms. Investigations confirmed SIADH, yet repeated imaging (including thoracic CT and FDG PET-CT) failed to identify a source. Eventually, a 68Ga-DOTANOC PET-CT revealed an isolated lesion in the left ethmoid region. Surgical resection via an endoscopic approach confirmed the diagnosis of a Hyams grade 1 ONB. Following complete tumour removal, the patient's hyponatraemia resolved.

Literature review: ONB accounts for <3% of nasal tumours and can present with non-specific symptoms, delaying diagnosis. Most patients have a typical combination of nasal obstruction and epistaxis, but paraneoplastic SIADH is reported in about 2% of cases. Complete surgical excision is the cornerstone of therapy, often accompanied by radiotherapy or chemotherapy for higher-grade lesions. Recent advances suggest that somatostatin receptor imaging and targeted radionuclide therapy might benefit select patients, particularly those with unresectable or recurrent disease.

Conclusion: This case highlights the importance of considering ONB in patients with unexplained SIADH, especially when initial investigations are inconclusive. It also underscores the utility of 68Ga-DOTANOC PET-CT in detecting occult neuroendocrine tumours, and reinforces the value of prompt surgical intervention for definitive treatment.

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