دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc−99m ECD SPECT Imaging
المؤلفون: Cheng-Chun Chiang, Yu-Che Wu, Chiao-Hsin Lan, Kuan-Chieh Wang, Hsuan-Ching Tang, Shin-Tsu Chang
المصدر: Tomography, Vol 9, Iss 6, Pp 2261-2269 (2023)
بيانات النشر: MDPI AG, 2023.
سنة النشر: 2023
المجموعة: LCC:Computer applications to medicine. Medical informatics
مصطلحات موضوعية: hereditary sensory and autonomic neuropathy type 4, single-photon emission computed tomography, postcentral gyrus, thalamus, cerebellum, pain, Computer applications to medicine. Medical informatics, R858-859.7
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2379-139X
2379-1381
93596464
العلاقة: https://www.mdpi.com/2379-139X/9/6/175Test; https://doaj.org/toc/2379-1381Test; https://doaj.org/toc/2379-139XTest
DOI: 10.3390/tomography9060175
الوصول الحر: https://doaj.org/article/6269e935964645898f7379bd03a1cb94Test
رقم الانضمام: edsdoj.6269e935964645898f7379bd03a1cb94
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2379139X
23791381
93596464
DOI:10.3390/tomography9060175