[Recurrent flaccid paralysis indicative of acute intermittent porphyria in a child].

UNLABELLED

Porphyrias are inherited metabolic diseases characterized by accumulation and increased excretion of porphyrins due to enzyme deficiencies involved in the biosynthesis of heme. Porphyrias are monogenic autosomal and mostly dominant disorders.

CASE REPORT

A 10-year-old boy was diagnosed with acute intermittent porphyria on the basis of recurrent flaccid paralysis with red urine. Confirmation was obtained by measurement of urinary porphyrin precursors and chromatography of porphyrins.

CONCLUSION

Acute intermittent porphyria is a severe form of hereditary porphyria with severe neurological complications during an acute episode. Specific investigations should be performed early and urgently in the presence of suggestive signs in a child.