title: A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report.
abstract: Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP.
authors.affiliation: Senior Resident, Department of Pediatrics, Topiwala National Medical College and BYL Nair CH. Hospital , Mumbai, Maharashtra, India .
authors.forename: Smilu
authors.initials: S
authors.lastname: Mohanlal
authors.affiliation: Professor, Department of Pediatrics, Topiwala National Medical College and BYL Nair CH. Hospital , Mumbai, Maharashtra, India .
authors.forename: Radha Gulati
authors.initials: RG
authors.lastname: Ghildiyal
authors.affiliation: Associate Professor, Department of Pediatrics, Topiwala National Medical College and BYL Nair CH. Hospital , Mumbai, Maharashtra, India .
authors.forename: Alpana
authors.initials: A
authors.lastname: Kondekar
authors.affiliation: Associate Professor, Department of Pediatrics, Topiwala National Medical College and BYL Nair CH. Hospital , Mumbai, Maharashtra, India .
authors.forename: Poonam
authors.initials: P
authors.lastname: Wade
authors.affiliation: Resident, Department of Pediatrics, Topiwala National Medical College and BYL Nair CH. Hospital , Mumbai, Maharashtra, India .
authors.forename: Richa
authors.initials: R
authors.lastname: Sinha
keywords: Abdominal pain; Posterior reversible encephalopathy syndrome; Seizures