Open AccessA Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report
Author(s) -
Smilu Mohanlal,
Radha Ghildiyal,
Alpana Kondekar,
Poonam Wade,
Richa Sinha
Publication year - 2016
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2016/20464.8609
Subject(s) - medicine , porphyria , hyponatremia , abdominal pain , encephalopathy , acute intermittent porphyria , polyneuropathy , posterior reversible encephalopathy syndrome , abdomen , peripheral neuropathy , neurological examination , electroencephalography , pediatrics , anesthesia , surgery , radiology , magnetic resonance imaging , endocrinology , diabetes mellitus , psychiatry
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.