Document Detail

Cranial CT and MRI in malignant phenylketonuria.
MedLine Citation:
PMID:  1508595     Owner:  NLM     Status:  MEDLINE    
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.
F Gudinchet; P Maeder; R A Meuli; T Deonna; J M Mathieu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric radiology     Volume:  22     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  1992  
Date Detail:
Created Date:  1992-09-22     Completed Date:  1992-09-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  223-4     Citation Subset:  IM    
Department of Radiology, CHUV, Lausanne, Switzerland.
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MeSH Terms
Brain / pathology,  radiography
Magnetic Resonance Imaging
Phenylketonurias / diagnosis*
Tomography, X-Ray Computed

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