[Adolescent crisis with cyclic abdominal complaints and regressive behavior]

Area of Science:

• Biochemistry
• Genetics
• Clinical Medicine

Background:

• Acute intermittent porphyria (AIP) is a rare genetic disorder affecting heme biosynthesis.
• It presents with diverse neurological and psychiatric symptoms, often mimicking other conditions.
• Early diagnosis is crucial for effective management and preventing severe complications.

Observation:

• An 18-year-old female experienced adolescent crisis, psychic regression, and cyclic abdominal pain.
• Diagnostic workup revealed elevated urine porphobilinogen and low serum urosynthase enzyme levels.
• Genetic testing confirmed a mutation in the urosynthase gene, establishing the diagnosis of AIP.

Findings:

• The case highlights the diagnostic challenges of AIP, especially in adolescents.
• Key diagnostic markers include biochemical assays (urosynthase levels) and genetic analysis.
• Understanding the pathogenesis of AIP is vital for interpreting clinical and laboratory findings.

Implications:

• This case underscores the importance of considering AIP in young patients with unexplained abdominal pain and neurological/psychiatric symptoms.
• Management involves avoiding contraindicated medications and considering acute porphyria treatments.
• Genetic counseling and awareness of medication safety are critical for patients with AIP and their families.