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

• Main Authors: Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha
• Format: Article
• Language: English
• Published: JCDR Research and Publications Private Limited 2016-10-01
• Series: Journal of Clinical and Diagnostic Research
• Subjects: abdominal pain; posterior reversible encephalopathy syndrome; seizures
• Online Access: https://jcdr.net/articles/PDF/8609/20464_CE(Ra1)_F(AK)_PF1(AHEKAK)_PFA(AK).pdf

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.