title: Acute intermittent porphyria: A critical diagnosis for favorable outcome.
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.
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
authors.forename: Chhaya
authors.initials: C
authors.lastname: Divecha
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
authors.forename: Milind S
authors.initials: MS
authors.lastname: Tullu
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
authors.forename: Akanksha
authors.initials: A
authors.lastname: Gandhi
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
authors.forename: Chandrahas T
authors.initials: CT
authors.lastname: Deshmukh
keywords: Acute porphyria; child; developing countries; diagnostic challenge; hemin; therapy