[Acute intermittent porphyria is a difficult diagnosis--especially in children].
BACKGROUND
Acute intermittent porphyria is a rare disease, and it is often confused with other diseases since the symptoms, abdominal pain, paresis and depression are rather common. The disease most often becomes manifest after puberty, but cases in childhood have been described. The present paper deals with a child with onset of acute intermittent porphyria at eight years of age.


METHODS
This case story is based on journals from different hospitals and the diary of the father of the boy. The analytical methods are those commonly used at the National Centre for Porphyria in Norway.


RESULTS
Six years passed from the debut of symptoms to the diagnosis acute intermittent porphyria was obtained, and the boy has now permanent paresis. Further examination of the family disclosed that both his father and brother were affected.


CONCLUSIONS
It is important to know that acute intermittent porphyria may even occur in children. There is established a National Centre for Porphyria in Norway. This centre will offer advice to patients and health care professionals concerning the diagnosing, treatment and prophylaxis of porphyria diseases.
Sandberg
S
S
Nasjonalt kompetansesenter for porfyrisykdommer Haukeland Sykehus 5021 Bergen. sverre.sandberg@isf.uib.no
Brun
A
A
Skadberg
Ø
Ø
Iversen
I R
IR
Benestad
Y
Y
Danielsen
O K
OK
D000293:Adolescent; D002648:Child; D003600:Cytosol / Q000201:enzymology / Q000378:metabolism; D003937:Diagnosis, Differential; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D008297:Male; D008499:Medical Records; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism
D006418:Heme