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A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report
Smilu Mohanlal1, Radha Gulati Ghildiyal2, Alpana Kondekar3
1Senior Resident, Department of Pediatrics, Topiwala National Medical College and BYL Nair CH. Hospital , Mumbai, Maharashtra, India .
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.
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