Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report.

IF 3.9 3区 医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2024-10-18 DOI:10.1111/jns.12668
Julian Theuriet, Mathieu Gerfaud-Valentin, Cécile-Audrey Durel, Laurent Gouya, Antoine Pegat
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Abstract

Background and aims: Porphyrias are inherited metabolic disorders caused by mutations in genes encoding enzymes involved in the heme biosynthetic pathway, leading to the accumulation of heme precursors. Acute hepatic porphyrias (AHP), including acute intermittent porphyria (AIP), can present with predominant peripheral neurological manifestations, often leading to a misdiagnosis as Guillain-Barré syndrome.

Methods: We report a case of AIP initially presenting as a peripheral neuropathy mimicking Parsonage-Turner syndrome (neuralgic amyotrophy, NA). Clinical and electrophysiological evaluations were conducted, including nerve conduction studies and needle electromyography (EMG).

Results: A 41-year-old woman presented with burning pain and electric shock-like sensations in the shoulders and trunk, alongside asymmetrical motor weakness in the upper limbs affecting arm abduction and finger extension. Electrophysiological evaluation revealed involvement of the superior trunk of the brachial plexus and the posterior interosseous nerve. Initially diagnosed with NA, she showed significant improvement in proximal strength over nine months but relapsed at fourteen months with severe finger extension weakness. Concurrent severe abdominal pain with constipation led to the identification of elevated urinary porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) levels, confirming AHP and specifically AIP via genetic and biochemical testing. The patient received hemin and givosiran infusions, resulting in decreased ALA levels, improvement of motor weakness, and no further attacks.

Interpretation: This case underscores the need to consider AIP in the differential diagnosis of acute neuropathies like NA, especially when accompanied by abdominal pain and severe constipation. Early recognition and appropriate testing for PBG and ALA can prevent misdiagnosis and enable targeted treatment.

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急性间歇性卟啉症的神经性肌萎缩:病例报告。
背景和目的:卟啉症是一种遗传性代谢性疾病,由参与血红素生物合成途径的酶的编码基因突变引起,导致血红素前体积聚。急性肝性卟啉症(AHP),包括急性间歇性卟啉症(AIP),可表现为主要的周围神经症状,常被误诊为格林-巴利综合征:我们报告了一例最初表现为模仿帕森纳-特纳综合征(神经性肌萎缩,NA)的周围神经病变的 AIP 患者。我们进行了临床和电生理评估,包括神经传导研究和针刺肌电图(EMG):一名 41 岁的女性患者出现肩部和躯干灼痛和电击样感觉,上肢不对称运动无力,影响手臂外展和手指伸展。电生理评估显示,臂丛上干和后骨间神经受累。她最初被诊断为NA,9个月后近端肌力明显改善,但14个月后复发,手指严重伸展无力。患者同时伴有剧烈腹痛和便秘,经基因和生化检测,发现尿中卟啉原(PBG)和δ-氨基乙酰丙酸(ALA)水平升高,确诊为 AHP,特别是 AIP。患者接受了海明和吉沃西兰输液治疗,ALA水平有所下降,运动无力症状有所改善,而且没有再发作:本病例强调了在鉴别诊断NA等急性神经病时考虑AIP的必要性,尤其是伴有腹痛和严重便秘时。早期识别并进行适当的 PBG 和 ALA 检测可防止误诊并进行有针对性的治疗。
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来源期刊
CiteScore
6.10
自引率
7.90%
发文量
45
审稿时长
>12 weeks
期刊介绍: The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
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