临床推理：一名 65 岁女性的孤立性巨舌症是一种罕见疾病的最初表现。

IF 7.7 1区医学 Q1 CLINICAL NEUROLOGY

Neurology Pub Date : 2024-12-24 Epub Date: 2024-11-19 DOI:10.1212/WNL.0000000000210070

Carlos Lara, Alejandra C Lastra, Elizabeth Blair, Helene Rubeiz, Kourosh Rezania, Betty Soliven

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引用次数: 0

摘要

巨舌可以出现在多种疾病中，但如果作为一种孤立的症状出现，对其进行评估就变得更具挑战性。这是一例 65 岁患者的病例，患者患有孤立的进行性舌肥大，病因不明，已持续 5 年之久。我们探讨了巨舌症的病因，并讨论了帮助我们缩小患者鉴别诊断范围的临床和诊断程序。我们强调要寻找更多系统受累的证据，并使用适当的基因检测来改变病程，避免延误治疗。

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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Clinical Reasoning: A 65-Year-Old Woman With Isolated Macroglossia as the Initial Presentation of a Rare Disease.

Macroglossia can be seen in multiple conditions, but its evaluation becomes more challenging when approached as an isolated presenting symptom. This is a case of a 65-year-old patient with isolated progressive tongue hypertrophy of unclear etiology for 5 years. We navigate the causes of macroglossia and discuss the clinical and diagnostic procedures that helped us narrow the differential diagnoses for our patient. We emphasize searching for evidence of more systemic involvement and the use of appropriate genetic testing to change the course of the disease and avoid therapeutic delay.

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来源期刊

Neurology 医学-临床神经学

CiteScore

12.20

自引率

4.00%

发文量

1973

审稿时长

2-3 weeks

期刊介绍： Neurology, the official journal of the American Academy of Neurology, aspires to be the premier peer-reviewed journal for clinical neurology research. Its mission is to publish exceptional peer-reviewed original research articles, editorials, and reviews to improve patient care, education, clinical research, and professionalism in neurology. As the leading clinical neurology journal worldwide, Neurology targets physicians specializing in nervous system diseases and conditions. It aims to advance the field by presenting new basic and clinical research that influences neurological practice. The journal is a leading source of cutting-edge, peer-reviewed information for the neurology community worldwide. Editorial content includes Research, Clinical/Scientific Notes, Views, Historical Neurology, NeuroImages, Humanities, Letters, and position papers from the American Academy of Neurology. The online version is considered the definitive version, encompassing all available content. Neurology is indexed in prestigious databases such as MEDLINE/PubMed, Embase, Scopus, Biological Abstracts®, PsycINFO®, Current Contents®, Web of Science®, CrossRef, and Google Scholar.