Cranial CT and MRI in malignant phenylketonuria.

Details

Serval ID
serval:BIB_A5E58498B292
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Cranial CT and MRI in malignant phenylketonuria.
Journal
Pediatric Radiology
Author(s)
Gudinchet F., Maeder P., Meuli R.A., Deonna T., Mathieu J.M.
ISSN
0301-0449
Publication state
Published
Issued date
1992
Peer-reviewed
Oui
Volume
22
Number
3
Pages
223-224
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
Malignant phenylketonuria is a rare disease caused by a deficiency in dihydropteridine-reductase which induce a hyperphenylalaninemia and a deficiency of neurotransmitters such as 3,4,dihydroxyphenylalanine (DOPA) and 5 hydroxytryptophan. The case of a patient with malignant phenylketonuria (PKU) who underwent both CT and MR Imaging is reported. CT demonstrated the characteristic calcifications of the basal ganglia. MRI demonstrated areas of hypersignal on T1 images in the basal ganglia, subcortical frontal and occipital white matter and cortex probably corresponding to calcifications. The MR findings are not specific but could be useful in monitoring the diet and neurotransmitter substitution therapy.
Keywords
Brain/pathology, Brain/radiography, Female, Humans, Infant, Magnetic Resonance Imaging, Phenylketonurias/diagnosis, Tomography, X-Ray Computed
Pubmed
Web of science
Create date
08/04/2008 14:38
Last modification date
20/08/2019 15:11
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