Theuriet Julian, Gerfaud-Valentin Mathieu, Durel Cécile-Audrey, Gouya Laurent, Pegat Antoine
Service d'ENMG et de pathologies neuromusculaires, centre de référence des maladies neuromusculaires PACA-Réunion-Rhône-Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est, Bron, France.
Service de médecine interne, Hôpital Saint Luc Saint Joseph, Lyon, France.
J Peripher Nerv Syst. 2024 Dec;29(4):567-569. doi: 10.1111/jns.12668. Epub 2024 Oct 18.
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.
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).
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.
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.
卟啉病是由血红素生物合成途径中编码酶的基因突变引起的遗传性代谢紊乱，导致血红素前体的积累。急性肝卟啉病（AHP），包括急性间歇性卟啉病（AIP），可主要表现为周围神经症状，常导致误诊为吉兰 - 巴雷综合征。
我们报告一例最初表现为类似帕森吉 - 特纳综合征（神经痛性肌萎缩，NA）的周围神经病的AIP病例。进行了临床和电生理评估，包括神经传导研究和针极肌电图（EMG）。
一名41岁女性出现肩部和躯干灼痛及电击样感觉，同时上肢存在不对称运动无力，影响手臂外展和手指伸展。电生理评估显示臂丛神经上干和骨间后神经受累。最初诊断为NA，她在9个月内近端肌力有显著改善，但在14个月时复发，出现严重的手指伸展无力。同时伴有严重腹痛和便秘，导致尿卟胆原（PBG）和δ-氨基乙酰丙酸（ALA）水平升高，通过基因和生化检测确诊为AHP，具体为AIP。患者接受了血红素和吉沃西兰输注，导致ALA水平下降，运动无力改善，且未再发作。
该病例强调在NA等急性神经病的鉴别诊断中需要考虑AIP，尤其是伴有腹痛和严重便秘时。早期识别并对PBG和ALA进行适当检测可防止误诊并实现针对性治疗。
