Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc-99m ECD SPECT Imaging.

IF 2.2 4区医学 Q2 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

Tomography Pub Date : 2023-12-18 DOI:10.3390/tomography9060175

Cheng-Chun Chiang, Yu-Che Wu, Chiao-Hsin Lan, Kuan-Chieh Wang, Hsuan-Ching Tang, Shin-Tsu Chang

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引用次数: 0

Abstract

Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates the central nervous system's (CNS) involvement and its relation to pain insensitivity in HSAN4. We present a 15-year-old girl with HSAN4, displaying clinical signs suggestive of CNS impact, including spasticity and a positive Babinski's sign. Using Technetium-99m ethyl cysteinate dimer single-photon emission computed tomography (Tc-99m ECD SPECT) imaging, we discovered perfusion deficits in key brain regions, notably the cerebellum, thalamus, and postcentral gyrus. These regions process pain signals, providing insights into HSAN4's pain insensitivity. This study represents the first visualization of CNS perfusion abnormality in an HSAN4 patient. It highlights the intricate relationship between the peripheral and central nervous systems in HSAN4. The complexity of HSAN4 diagnosis, involving potential unidentified genes, underscores the need for continued research to refine diagnostic approaches and develop comprehensive treatments.

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探索中枢神经系统在遗传性感觉和自主神经病变 4 型疼痛不敏感中的参与：Tc-99m ECD SPECT 成像的启示。

遗传性感觉和自主神经病变4型（HSAN4），又称先天性无汗症疼痛不敏感（CIPA），是一种罕见的遗传性疾病，由NTRK1基因突变引起，影响神经生长因子信号传导。本研究探讨了 HSAN4 中枢神经系统（CNS）的参与及其与疼痛不敏感的关系。我们介绍了一名患有 HSAN4 的 15 岁女孩，她的临床症状提示中枢神经系统受到影响，包括痉挛和巴宾斯基征阳性。通过锝-99m半胱氨酸乙酯二聚体单光子发射计算机断层扫描（Tc-99m ECD SPECT）成像，我们发现了关键脑区的灌注缺陷，尤其是小脑、丘脑和中央后回。这些区域会处理疼痛信号，为了解 HSAN4 的疼痛不敏感性提供了线索。这项研究首次发现了 HSAN4 患者的中枢神经系统灌注异常。它凸显了 HSAN4 患者周围和中枢神经系统之间错综复杂的关系。HSAN4 诊断的复杂性涉及潜在的未确定基因，这凸显了继续研究以完善诊断方法和开发综合疗法的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Tomography Medicine-Radiology, Nuclear Medicine and Imaging

CiteScore

2.70

自引率

10.50%

发文量

222

期刊介绍： TomographyTM publishes basic (technical and pre-clinical) and clinical scientific articles which involve the advancement of imaging technologies. Tomography encompasses studies that use single or multiple imaging modalities including for example CT, US, PET, SPECT, MR and hyperpolarization technologies, as well as optical modalities (i.e. bioluminescence, photoacoustic, endomicroscopy, fiber optic imaging and optical computed tomography) in basic sciences, engineering, preclinical and clinical medicine. Tomography also welcomes studies involving exploration and refinement of contrast mechanisms and image-derived metrics within and across modalities toward the development of novel imaging probes for image-based feedback and intervention. The use of imaging in biology and medicine provides unparalleled opportunities to noninvasively interrogate tissues to obtain real-time dynamic and quantitative information required for diagnosis and response to interventions and to follow evolving pathological conditions. As multi-modal studies and the complexities of imaging technologies themselves are ever increasing to provide advanced information to scientists and clinicians. Tomography provides a unique publication venue allowing investigators the opportunity to more precisely communicate integrated findings related to the diverse and heterogeneous features associated with underlying anatomical, physiological, functional, metabolic and molecular genetic activities of normal and diseased tissue. Thus Tomography publishes peer-reviewed articles which involve the broad use of imaging of any tissue and disease type including both preclinical and clinical investigations. In addition, hardware/software along with chemical and molecular probe advances are welcome as they are deemed to significantly contribute towards the long-term goal of improving the overall impact of imaging on scientific and clinical discovery.