A RARE METABOLIC DISORDER PORPHYRIAS NEUROLOGICAL MANIFESTATIONS
Abstract
Abstract :
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
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