A RARE METABOLIC DISORDER PORPHYRIAS NEUROLOGICAL MANIFESTATIONS

Porphyrias are a group of rare metabolic disorders.Porphyrias have a large spectrum of clinical manifestations.17 year old ,male was admitted with fever,recurrent vomiting, seizure and altered sensorium. Inaddition, he had hyponatremia and syndrome of inappropriate antidiuretic hormone secretion ( SIADH).Subsequently, the patient developed a high blood pressure-labile hypertension,posterior reversible encephalopathy syndrome(PRES) and an acute areflexic quadriparesis with a predominant proximal weakness with preserved ankle jerks.The above features of labile hypertension,SIADH,acute areflexic quadriparesis with preserved ankle jerks in the background of abdominal complaints in the form of recurrent vomiting and encephalopathy made us consider the possibility of porphyria.Urine samples tested positive for porphyrin precursors qualitatively and quatitatively.This case is presented for its rarity and to highlight the varied spectrum of clinical manifestations of porphyria