Clinical Reasoning: Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia.

IF 7.7 1区医学 Q1 CLINICAL NEUROLOGY

Neurology Pub Date : 2024-12-27 DOI:10.1212/wnl.0000000000210253

Deepak Chadha,Lakshminarayanapuram Gopal Viswanathan,Rashmi Santhoshkumar,Aditi Goyal,Doniparthi Venkata Seshagiri,Yasha T Chickabasaviah,Madhu Nagappa

引用次数: 0

Abstract

A 16-year-old adolescent girl presented with progressive walking imbalance, uncoordination of her limbs, impaired proprioceptive sensation distal to her wrists and ankles, and sensorineural hearing loss. Her evaluation revealed diffuse cerebellar atrophy, a demyelinating neuropathy, and hypergonadotropic hypogonadism. In this article, we present a systematic approach to a patient with early-onset ataxia, cerebellar atrophy, and demyelinating neuropathy.

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临床推理：16岁早发性共济失调的临床表现和诊断挑战。

一位16岁的少女表现为进行性行走不平衡，四肢不协调，手腕和脚踝远端本体感觉受损，感音神经性听力丧失。她的评估显示弥漫性小脑萎缩，脱髓鞘神经病变和促性腺功能亢进。在这篇文章中，我们提出了一个系统的方法，以病人早发性共济失调，小脑萎缩，脱髓鞘神经病变。

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

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.