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Acute intermittent porphyria: a diagnostic challenge
Elizabeth Anyaegbu1, Michael Goodman, Sun-Young Ahn
1Department of Pediatrics, Division of Pediatric Nephrology, Washington University School of Medicine, St Louis, MO 63110, USA.
Journal of Child Neurology
|December 23, 2011
Summary
Acute intermittent porphyria (AIP) is rare in children. This case highlights AIP
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Acute intermittent porphyria (AIP) is a rare metabolic disorder.
- Diagnosis is often delayed due to nonspecific symptoms.
Observation:
- An 8-year-old boy with hemimegalencephaly and seizures presented with dark urine, hypertension, lethargy, and hyponatremia.
- Elevated urine porphobilinogen confirmed AIP diagnosis.
Findings:
- Treatment with hemin and discontinuation of antiepileptic drugs led to significant clinical improvement.
- AIP diagnosis was complicated by the patient's underlying neurological condition.
Implications:
- This case underscores the diverse presentations of AIP, even in young patients with neurological comorbidities.
- Early consideration of AIP is crucial for patients with unexplained neurovisceral symptoms or deterioration.
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