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.