Abstract
Acute intermittent porphyria (AIP) is a rare autosomal dominant hereditary metabolic disorder having protean manifestations. It usually presents with short duration of gastrointestinal symptoms followed by rapidly progressive fulminant neurological syndrome. It is a neurological emergency and mimics many other psychiatric and medical disorders and can be fatal if it remains undiagnosed and untreated. Further, specific treatment in the form of Heme arginate is not universally available and very costly, so high clinical suspicion and early diagnosis and management of acute attack and prevention of further attacks are very important. Here, we report a 23 years old married female nurse presenting with recurrent acute abdomen requiring frequent hospital admissions along with convulsion during her last attack. The presence of porphyrins in urine confirms the diagnosis of AIP.
Highlights
Acute intermittent porphyria (AIP) is an autosomal dominant disorder, resulting from partial deficiency of porphobilinogen deaminase (PBGD) enzyme in the haem biosynthetic pathway [1]
Peripheral neuropathy and changes in the mental status are the classical triad of an acute attack [9]
The diagnosis of AIP depends on clinical history and increased amount of porphyrins or porphyrin precursors in the urine, feces and blood.The presence of reduced erythrocyte PBG deaminase activity (PBGD) helps to confirm the diagnosis
Summary
Acute intermittent porphyria (AIP) is an autosomal dominant disorder, resulting from partial deficiency of porphobilinogen deaminase (PBGD) enzyme in the haem biosynthetic pathway [1]. There was no history of fever, weight loss, altered bowel habit, passage of fatty, bloody or mucoid stool, hematemesis or melana, abdominal distension, joint pain, rash, cough She denied any sexual promiscuity or contact with any patient with active tuberculosis. Patient was not so well oriented with some features of psychosis(self spitting, lip smacking),tachycardia with pulse 102/min, regular, raised BP of 160/95 mm of Hg ,abdomen was non tender with sluggish bowel sounds and no ascites or organomegaly or lump. 24 hours porphobilinogen was sent which revealed 41.8 mg/day (normal
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