小儿琥珀酸脱氢酶b缺乏症副神经节瘤的影像学表现。

IF 1 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING Journal of nuclear medicine technology Pub Date : 2023-12-05 DOI:10.2967/jnmt.123.265655
Stephen Edmonds, Jennifer Davidson, Rosanne Joseph, Madhusudan Vyas
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引用次数: 0

摘要

嗜铬细胞瘤和副神经节瘤在儿童中很少见,每5万例中只有1例。尽管有些病例是散发的,但它们与von Hippel-Lindau、多发性内分泌肿瘤IIa和IIb型、1型神经纤维瘤病和遗传性嗜铬细胞瘤-副神经节瘤综合征等综合征有关。在18岁以下的儿童中,大约60%的嗜铬细胞瘤和副神经节瘤是由基因突变引起的。方法:报告一名有6年背部不适病史的15岁儿童。在本案例研究中,对使用68Ga-DOTATATE PET/CT和123i -间碘苄基胍SPECT/CT这两种功能成像方式的合理性进行了研究。我们回顾了患者的旅程,因为第一次转诊成像。结果:延迟分子成像方式影响了患者的整体诊断和应用治疗效果。结论:本病例研究探讨了早期使用各种诊断方式与诊断测试相结合以促进早期诊断的可能性。然而,由于这项研究仅基于影像学,缺乏对患者临床或家族史的了解,因此没有解决卫生保健设施、卫生素养和社会经济地位等潜在不平等因素。必须承认这些影响,因为它们助长了新西兰获得保健设施的不公平机会。
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Imaging Pathway of a Pediatric Patient with Succinate Dehydrogenase B-Deficient Paraganglioma.

Pheochromocytoma and paraganglioma are rare in children, at only 1 in every 50,000 cases. Even though some cases are sporadic, they have been connected to syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type 1, and hereditary pheochromocytoma-paraganglioma syndromes. A genetic mutation causes around 60% of pheochromocytomas and paragangliomas in children under 18. Methods: A 15-y-old child with a 6-y history of back discomfort is presented. The justification for using 2 functional imaging modalities, 68Ga-DOTATATE PET/CT and 123I-meta-iodobenzylguanidine SPECT/CT, is examined in this case study. We reviewed the patients' journey since the first referral for imaging. Results: Delaying the molecular imaging modalities has affected patients' overall diagnosis and applied treatment outcomes. Conclusion: This case study investigates the potential for the earlier use of various diagnostic modalities in conjunction with diagnostic testing to facilitate an earlier diagnosis. However, since this study is based solely on imaging and lacks access to the patient's clinical or family history, factors such as potential inequities in health-care facilities, health literacy, and socioeconomic status are not addressed. It is essential to acknowledge these influences as they contribute to the inequitable access to health-care settings in New Zealand.

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来源期刊
Journal of nuclear medicine technology
Journal of nuclear medicine technology RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
CiteScore
1.90
自引率
15.40%
发文量
57
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