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Acute intermittent porphyria: A critical diagnosis for favorable outcome
Chhaya Divecha1, Milind S Tullu1, Akanksha Gandhi1
1Department of Pediatrics, Pediatric Intensive Care Unit, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
Insights
Acute intermittent porphyria (AIP), a rare inherited metabolic disorder, can present with vague symptoms in children. This case highlights diagnostic challenges and the critical need for accessible treatments like intravenous hemin in developing nations.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Acute intermittent porphyria (AIP) is an inherited metabolic disorder involving heme pathway metabolite accumulation.
- AIP rarely presents in prepubertal children and often has nonspecific symptoms, complicating diagnosis.
- Medications and stress can trigger AIP attacks.
Observation:
- A previously healthy 5-year-old female presented with symptoms initially diagnosed as acute central nervous system infection/inflammation.
- The presence of specific red flags prompted a re-evaluation and led to the suspicion of AIP.
- Intravenous hemin, the drug of choice for AIP, was sought but difficult to obtain.
Findings:
- The patient received three doses of intravenous hemin.
- Despite treatment, the patient unfortunately succumbed to the condition.
- Diagnostic and therapeutic challenges were encountered, particularly in a developing country context.
Implications:
- This case underscores the importance of recognizing red flags for rare diseases like AIP in pediatric patients.
- It highlights significant barriers in accessing essential medications such as intravenous hemin in resource-limited settings.
- Improved diagnostic strategies and drug accessibility are crucial for managing AIP in developing countries.
Abstract:
Acute intermittent porphyria (AIP) is an inherited metabolic disorder characterized by the accumulation of toxic metabolites of the heme pathway. It rarely presents in the prepubertal age group. AIP often presents with nonspecific and nonlocalizing symptoms. Moreover, several commonly used medications and stress states are known to precipitate an attack. We present the case of a previously healthy 5 years female who was diagnosed as acute central nervous system infection/inflammation at admission. It was the presence of red flags that led to a correct diagnosis. Besides supportive management, a dedicated search for intravenous hemin (chemically heme arginate, aminolevulinic acid synthase inhibitor, and drug of choice) was attempted. Unexpected help was rendered by doctors from a medical college in Gujarat, and two ampoules could be obtained. The patient received three doses of intravenous hemin; however, she succumbed later. This case is presented for the diagnostic and therapeutic challenges faced in developing countries.
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