[Acute intermittent porphyria associated with epilepsy in a child: diagnostic and therapeutic difficulties].
BACKGROUND
Acute intermittent porphyria is an autosomal dominant inborn error of heme biosynthesis. The diagnosis of acute porphyria is rare before puberty. Its association with epilepsy induces difficulties in diagnosis and seizure treatment.


METHODS
A case of acute intermittent porphyria in a 9-year old boy with epilepsy is reported. The diagnosis was made only after the third hospitalisation, with the measurement of enzyme activity and identification of family members with latent disease. Adjustment of antiepileptic treatment was necessary 7 months later.


CONCLUSIONS
Most antiepileptic drugs are unsafe because they have demonstrated porphyrinogenicity. Low doses of clonazepam can be used in this situation.
Chaix
Y
Y
Service de médecine infantile A, CHU de Purpan, Toulouse, France.
Gencourt
C
C
Grouteau
E
E
Carrière
J P
JP
D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002998:Clonazepam / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D004828:Epilepsies, Partial / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D008297:Male; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D014635:Valproic Acid / Q000627:therapeutic use
D000927:Anticonvulsants; D002998:Clonazepam; D014635:Valproic Acid