Learning points from a delayed diagnosis of Porphyria

Dr. Kamalasanan. C. G; Dr. Akhila Arya. P. V; Dr. Kiran K

Volume : VIII, Issue : VII, July - 2019

Learning points from a delayed diagnosis of Porphyria

Dr. Kamalasanan. C. G, Dr. Akhila Arya. P. V, Dr. Kiran K

Abstract :

A 26year male with no significant past medical history presented with complaints of abdominal pain, altered sensorium and seizure. Clinical examination was significant for a blood pressure of 160/90 mm Hg and diffuse abdominal tenderness. On detailed history, there was similar events in the past without any clear diagnosis even after extensive work up. Urine porphobilinogen test done earlier was negative, but it was done without proper urine collection methods. Serum cortisol was low along with low sodium, serum amylase was elevated on one occasion, all these led on to delay in diagnosis. Because of a high suspicion for acute intermittent porphyria (AIP), urine was tested for porphobilinogen (PBG) with proper care and came as positive. Patient was treated with glucose, electrolyte correction and other supportive measures with which he improved and was discharged home