Keywords :
Acute intermittent porphyria, Hemin, Hydroxymethyl bilane synthase gene mutation, Pediatric intensive care unit, Prepubertal child
Citation Information :
Sharma AG, Pandit K, Gupta S, Kumar V. Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review. Indian J Crit Care Med 2022; 26 (3):390-394.
Acute intermittent porphyria (AIP) is autosomal dominant metabolic disorder of adulthood with limited case reports in children. Literature review from Western countries shows that most children present with non-specific gastrointestinal and neuropsychiatric symptoms with no family history. Moreover, the attacks are recurrent and precipitated by various factors (drugs/infection). We describe the case of 11-year-old male child who presented with acute abdominal pain, seizures, hypertension, quadriparesis, neuropathy, and respiratory weakness necessitating ventilatory and intensive care. Diagnosis of AIP was suspected on basis of bedside urine testing and confirmed with hydroxymethylbilane synthase gene mutation study. Besides supportive therapy, child was managed successfully with intravenous hemin, an orphan drug, which was procured with great difficulty. This case is presented for highlighting the diagnostic and therapeutic challenges faced in management of such cases in a developing country. We also review Indian literature for similar cases and discuss the clinical presentation, diagnosis, and management of AIP in children.
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