Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of pyrimidine metabolism. Patients may present with a wide range of neurological symptoms during the first years of life. Head imaging abnormalities have been reported only rarely and include diffuse cerebral atr...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2004-01, Vol.27 (4), p.513-522
Main Authors: Enns, G. M., Barkovich, A. J., Kuilenburg, A. B. P., Manning, M., Sanger, T., Witt, D. R., Gennip, A. H.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - pathology
Dihydropyrimidine Dehydrogenase Deficiency
Fatal Outcome
Feeding. Feeding behavior
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Humans
Infant
Magnetic Resonance Imaging
Molecular and cellular biology
Thymine - blood
Thymine - urine
Uracil - blood
Uracil - urine
Vertebrates: anatomy and physiology, studies on body, several organs or systems
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Summary:Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of pyrimidine metabolism. Patients may present with a wide range of neurological symptoms during the first years of life. Head imaging abnormalities have been reported only rarely and include diffuse cerebral atrophy and white‐matter hyperintensity. The pathogenesis of the white‐matter abnormalities is unknown, although environmental factors and altered energy metabolism may be involved. To further understanding of the spectrum of brain abnormalities associated with DPD deficiency, we report a 17‐month‐old girl, born to a consanguineous Pakistani couple, who had a history of encephalopathy, prolonged hypoventilation, developmental delay and failure to thrive. Head MRI showed prominent sulci and abnormal T2 prolongation in the cerebral white matter and brainstem. Thus, DPD deficiency may feature prominent brain abnormalities involving the cerebral white matter and brainstem. Anoxic stress may have contributed to the clinical presentation and brain findings in this case. In order to define more clearly the contribution of DPD deficiency to the pathogenesis of these MRI abnormalities, we recommend performing detailed analysis of urine pyrimidine metabolites in patients who have such findings.
ISSN:0141-8955
1573-2665
DOI:10.1023/B:BOLI.0000037350.24142.d5