目的：探讨急性间歇性卟啉病（acute intermittent porphyria，AIP）的神经系统临床表现、诊断及治疗要点，以提高对该病的早期识别与规范处置能力。

方法：报道1例以腹痛和癫痫起病的患者的临床资料，结合文献复习AIP的临床表现、发病机制、诊断、鉴别诊断和治疗。

结果：该患者先后出现急性腹痛、癫痫及近端为主运动轴索神经病，尿卟胆原显著升高，基因检测显示羟甲基胆素合成酶（hydroxymethylbilane synthase，HMBS）基因杂合突变。

结论：AIP神经系统表现具有特征性时序演变规律，尿卟胆原筛查是早期诊断的关键。尽早启用高铁血红素治疗对阻断病情进展和改善预后至关重要。

Objective: To investigate the neurological clinical manifestations, diagnosis, and key treatment strategies of acute intermittent porphyria (AIP), with the aim of improving early recognition and standardized management of the disease.

Methods: The clinical data of a patient who presented with abdominal pain and seizures at disease onset was reported, and a literature review regarding the clinical features, pathogenesis, diagnosis, differential diagnosis, and treatment of AIP was conducted.

Results: The patient successively developed acute abdominal pain, epileptic seizures, and predominantly proximal motor axonal neuropathy. Urinary porphobilinogen (PBG) levels were significantly elevated, and genetic testing revealed a heterozygous mutation in the hydroxymethylbilane synthase (HMBS) gene.

Conclusion: The neurological manifestations of AIP exhibited a characteristic temporal pattern of evolution, and urinary PBG screening is crucial for early diagnosis. Early initiation of hemin therapy is essential to halt disease progression and improve clinical outcomes.