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Archives de pédiatrie
Volume 17, n° 12
pages 1670-1672 (décembre 2010)
Doi : 10.1016/j.arcped.2010.08.010
Received : 9 October 2009 ;  accepted : 13 August 2010
Paralysie flasque récidivante révélatrice d’une porphyrie aiguë intermittente chez un enfant
Recurrent flaccid paralysis indicative of acute intermittent porphyria in a child
 

A. Dibi , H. Aitouamar, A. Bentahila
Service de pédiatrie IV, hôpital d’Enfants de Rabat, Rabat, Maroc 

Auteur correspondant.
Résumé

Les porphyries sont des maladies métaboliques héréditaires caractérisées par l’accumulation et l’excrétion accrue de porphyrines dues à des déficits d’enzymes impliquées dans le processus de biosynthèse de l’hème. Il s’agit de maladies monogéniques, pour la plupart à transmission autosomique et dominante. Nous rapportons un cas de diagnostic de porphyrie aiguë intermittente porté devant une paralysie flasque récidivante avec des urines rouge porto chez un enfant de 10 ans. La confirmation a été faite par le dosage des précurseurs des porphyrines urinaires et la chromatographie des porphyrines. La porphyrie aiguë intermittente, forme grave des porphyries héréditaires, est caractérisée par des complications neurologiques redoutables durant la crise aiguë. Sa recherche est urgente devant des signes évocateurs chez l’enfant.

The full text of this article is available in PDF format.
Summary

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.

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Mots clés : Porphyrie, Paralysie flasque




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