Department of Internal Medicine, Neurology Unit, Wollo University, PO. Box 26901, Dessie, Ethiopia.
Department of Neurology, Addis Ababa University, Addis Ababa, Ethiopia.
J Med Case Rep. 2024 Nov 27;18(1):571. doi: 10.1186/s13256-024-04945-x.
Charcot-Marie-Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits. Postural tremor as a manifestation of Charcot-Marie-Tooth is seldom present, except in a variant of Charcot-Marie-Tooth subtype 1 (Roussy-Levy syndrome), and its presence often results in a diagnostic dilemma.
We present a 34-year-old Eritrean man who came to our hospital with a complaint of tremors of the hands of 6 months duration. Associated with this, he had difficulty walking and weakness of the distal extremities bilaterally, prominently involving the lower limbs. The patient denied a family history of such illness. Physical examination revealed distal muscle weakness (4+/5 on upper limbs, while 3/5 on lower limbs bilaterally), pes cavus deformity, absent ankle reflexes, and mild vibratory sensory loss. We noted a postural tremor that attenuated when the patient assumed an anatomic position. The tremor was limited to the hands. Nerve conduction study of upper and lower limbs showed moderate to severe motor axonal and demyelinating polyneuropathy (axonal > demyelinating), suggestive of mixed axonal and demyelinating hereditary polyneuropathy. Subsequently, genetic testing revealed copy number changes (heterozygous deletion) on the MPZ and MFN2, while the PMP22 gene showed ambiguous copy number changes (decrease) on exons 2 and 3. Tying the clinical, electrophysiologic, and genetic findings, consideration of Charcot-Marie-Tooth subtype 2A with postural tremor was made. Subsequently, the patient was managed with regular physiotherapy and an anxiolytic resulting in minimal symptom improvement.
The present case describes a 34-year-old male patient with Charcot-Marie-Tooth subtype 2A presenting with neuropathic postural tremor, which is a rare presentation of a common hereditary polyneuropathy. This case highlights the fact that tremors can be associated with peripheral neuropathy syndromes, and a high index of suspicion is needed to rightly diagnose our patients.
Charcot-Marie-Tooth 病是一种遗传性疾病谱，其特征为运动和感觉表现，包括明显的远端肌肉无力、足畸形（马蹄内翻足和槌状趾）和感觉缺失。姿势性震颤作为 Charcot-Marie-Tooth 的一种表现形式很少见，除了在 Charcot-Marie-Tooth 亚型 1 的一种变体（Roussy-Levy 综合征）中，其存在常常导致诊断难题。
我们介绍一位 34 岁的厄立特里亚男性，他因手部震颤 6 个月来我院就诊。与此相关的是，他行走困难，双侧远端肢体无力，下肢尤为明显。患者否认有此类疾病的家族史。体格检查显示远端肌肉无力（上肢 4+/5，下肢双侧 3/5），马蹄内翻足畸形，踝反射消失，振动觉轻度丧失。我们注意到一种姿势性震颤，当患者采取解剖位时会减弱。震颤仅限于手部。上肢和下肢的神经传导研究显示中度至重度运动轴索性和脱髓鞘性多发性神经病（轴索性>脱髓鞘性），提示混合性轴索性和脱髓鞘性遗传性多发性神经病。随后，基因检测显示 MPZ 和 MFN2 上存在拷贝数变化（杂合性缺失），而 PMP22 基因在第 2 和 3 外显子上显示拷贝数变化（减少）不明确。将临床、电生理和基因发现联系起来，考虑到 Charcot-Marie-Tooth 亚型 2A 伴姿势性震颤。随后，患者接受了常规物理治疗和抗焦虑治疗，症状有轻微改善。
本病例描述了一位 34 岁男性患者，患有 Charcot-Marie-Tooth 亚型 2A，表现为神经源性姿势性震颤，这是一种常见遗传性多发性神经病的罕见表现。该病例强调了震颤可能与周围神经病综合征相关，需要高度怀疑才能正确诊断我们的患者。
