脑干和脊髓参与和乳酸盐升高的主要表现与运动不耐受性:一个案例报告
Changhao Li1, Wei Chen2, Juan Du3
1Department of Neurology, The Affiliated Hospital of Southwest Medical University, Luzhou, China.
Annals of clinical and laboratory science
|February 3, 2026
概括
脑干和脊髓受影响的白细胞大脑病变和乳糖升高 (LBSL) 可能伴有运动不耐受. 基因检测证实了患有这些症状和MRI发现的患者的DARS2突变.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 生物化学 生物化学
背景情况:
- 脑干和脊髓参与和乳酸升高 (LBSL) 的白血脑病是一种罕见的自体递归白血病.
- 它是由DARS2基因中的致病变体引起的.
- 临床表现各不相同,但运动不耐受症很少被记录.
研究的目的:
- 报告一个LBSL病例,主要表现为运动不耐受.
- 强调在无法解释的运动不耐受症的差异诊断中考虑LBSL的重要性.
- 突出神经成像和遗传确认在诊断中的作用.
主要方法:
- 一个24岁女性的病例报告,患有运动引起的疲劳.
- 临床检查,实验室测试 (血清乳酸盐),大脑和脊髓MRI.
- 分子分析证实了复合异构DARS2突变.
主要成果:
- 患者表现为运动不耐受,轻度下肢抵抗和反射过度.
- 运动后观察到血清乳酸水平升高.
- 核磁共振扫描显示白质异常和脊髓干扰与LBSL一致.
- 发现了复合异性DARS2突变.
结论:
- 在年轻患者中,应考虑LBSL,这些患者有不明原因的运动不耐受和特征的神经成像发现.
- 通过遗传确认进行早期诊断对于管理和咨询至关重要.
- 这一病例扩大了已知的DARS2相关白血病瘤的临床谱.
更多相关视频
07:32Experimental Protocol of a Three-minute, All-out Arm Crank Exercise Test in Spinal-cord Injured and Able-bodied Individuals
Published on: June 8, 2017
10.3K
05:28Electrophysiology on Isolated Brainstem-spinal Cord Preparations from Newborn Rodents Allows Neural Respiratory Network Output Recording
Published on: November 19, 2015
8.9K
相关概念视频
Spinal Cord
1.9K
The spinal cord, a critical component of the central nervous system, extends from the base of the brainstem to the lumbar region of the vertebral column. It is essential for maintaining physical stability and facilitating communication between the brain and peripheral parts of the body.
1.9K
The Spinal Cord
31.9K
The spinal cord is the body’s major nerve tract of the central nervous system, communicating afferent sensory information from the periphery to the brain and efferent motor information from the brain to the body. The human spinal cord extends from the hole at the base of the skull, or foramen magnum, to the level of the first or second lumbar vertebra.
31.9K
Spinal Cord: Information Processing
3.6K
The spinal cord is an integral hub for motor and sensory information that enables the brain to communicate with the peripheral nervous system (PNS). This communication consists of relaying sensory data and transmission of motor commands.
Sensory Information Processing
Sensory information processing begins at the sensory receptors located in the skin and other tissues, which detect somatic sensory stimuli such as touch, temperature, or pain. These receptors function as catalysts, initiating...
Sensory Information Processing
Sensory information processing begins at the sensory receptors located in the skin and other tissues, which detect somatic sensory stimuli such as touch, temperature, or pain. These receptors function as catalysts, initiating...
3.6K
Spinal Cord: Gross Anatomy
5.9K
The spinal cord resides within the protective confines of the vertebral column. It is the main pathway for information traveling between the brain and the body. It plays a fundamental role in nearly all bodily functions, from simple reflexes to complex motor movements. The spinal cord begins at the medulla oblongata at the base of the brainstem and extends downward, terminating at the conus medullaris near the first and second lumbar vertebrae. The spinal cord's length in adults is...
5.9K
Brainstem
6.5K
The brainstem, located inferior to the brain and superior to the spinal cord, serves as a bridge between the cerebrum and the spinal cord. It plays a vital role in relaying information and controlling critical life functions. It comprises three primary regions: the midbrain, pons, and medulla oblongata.
The Midbrain
The midbrain is located beneath the diencephalon and connects the cerebrum with the lower parts of the brain. The cerebral peduncles are prominent midbrain structures that house the...
The Midbrain
The midbrain is located beneath the diencephalon and connects the cerebrum with the lower parts of the brain. The cerebral peduncles are prominent midbrain structures that house the...
6.5K
Spinal Cord: Cross-sectional Anatomy
4.9K
The cross-sectional anatomy of the spinal cord offers a detailed view of its complex structure and function within the central nervous system. At the core of the spinal cord lies the gray matter, characterized by its butterfly or "H"-shaped appearance in cross-section. This central region is enveloped by white matter, with the overall structure divided into symmetrical halves by the dorsal median sulcus and the ventral median fissure.
Gray Matter and its Components
Central to the gray matter is...
Gray Matter and its Components
Central to the gray matter is...
4.9K
