An easily overlooked disease in the early stages: acute intermittent porphyria.

ABSTRACT:

Background

Acute intermittent porphyria (AIP) is an inherited metabolic disorder that can affect the central, peripheral, and autonomic nervous systems. Therefore, its clinical presentation is diverse and may include abdominal pain, as well as neurological and psychiatric symptoms. Abdominal pain, though a common initial symptom, is often overlooked or misdiagnosed due to its lack of specificity. But early diagnosis and treatment are crucial, as untreated symptoms can progressively worsen.

Case presentation

This report describes a 26-year-old male who was admitted due to seizures and PRES changes on brain magnetic resonance imaging (MRI) for over 30 days, along with a 20-day history of sudden proximal weakness in both upper limbs. Additionally, he experienced recurrent vomit

SUBMITTER: Wang J 

PROVIDER: S-EPMC11823016 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature