生物丁酶缺乏的非典型表现:掩饰神经炎光学谱系障碍
Farhan Ali1, Khairunnisa Mukhtiar2, Mohammad Raza1
1Women and Child Health, The Aga Khan University, Karachi, Sindh, Pakistan.
BMJ case reports
|July 11, 2024
概括
生物酶缺乏症 (BTD) 可以模仿神经髓炎光学谱系障碍 (NMOSD),导致诊断延迟. 早期生物素补充剂在大多数患者中大大改善了症状,突出显示BTD是关键的差异诊断.
科学领域:
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 遗传学是一种遗传学.
背景情况:
- 生物酶缺乏症 (BTD) 是一种遗传性代谢障碍,表现为脱发,皮肤炎,和发育迟缓.
- 视神经炎光谱障碍 (NMOSD) 是一种自身免疫性疾病,影响视神经和脊髓.
- BTD很少表现为视神经炎和脑膜炎,模仿NMOSD.
研究的目的:
- 报告三个BTD病例,最初由于临床和神经成像特征重叠而被误诊为NMOSD.
- 强调在NMOSD的差异诊断中考虑BTD的重要性,特别是当抗体测试呈阴性结果时.
- 强调BTD的可治疗性和生物补充剂的显著益处.
主要方法:
- 一系列病例报告了三名患有四肢和视力丧失的患者.
- 神经成像研究与NMOSD一致.
- 对aquaporin-4和髓寡干细胞糖蛋白抗体的检测呈阴性.
- 尿液有机酸分析检测BTD的标记物.
- 免疫疗法和生物素补充剂后临床反应评估.
主要成果:
- 这三名患者都出现了模仿NMOSD的症状,导致BTD诊断延迟.
- 两个患者最初对免疫疗法有反应,但复发;一个没有改善.
- 尿液中的有机酸表明生物丁酶或全碳酶合成酶缺乏.
- 两名患者在服用生物素补充剂后,运动功能和视力显著改善.
结论:
- BTD可以呈现出模仿NMOSD的严重神经症状,导致诊断延迟.
- 阴性NMOSD抗体测试应该促使进一步调查像BTD这样的代谢障碍.
- 及时诊断和生物补充剂对于出现神经症状的BTD患者的良好结果至关重要.
更多相关视频
12:23Dynamic Visual Tests to Identify and Quantify Visual Damage and Repair Following Demyelination in Optic Neuritis Patients
Published on: April 14, 2014
14.1K
10:19High-throughput Flow Cytometry Cell-based Assay to Detect Antibodies to N-Methyl-D-aspartate Receptor or Dopamine-2 Receptor in Human Serum
Published on: November 23, 2013
16.3K
相关概念视频
01:15Myasthenia Gravis: Diagnostic Tests
753
Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
753
01:20Myasthenia Gravis: Overview and Treatment
1.3K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.3K
01:28Disorders of the Skeletal Muscle
927
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
927