Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Table of Contents - Year : 2016 | Month : October | Volume : 10 | Issue : 10 | Page : SD01 - SD02

A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report SD01-SD02

Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha

Correspondence
Dr. Smilu Mohanlal,
Department of Pediatrics, 1ST Floor, College Building, Topiwala National Medical College and BYL Nair Hospital,
Mumbai Central, Mumbai-400008, Maharashtra, India.
E-mail: drsmilu@gmail.com

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.