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Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency
G M Enns1, A J Barkovich, A B P van Kuilenburg
1Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA 94305-5208, USA. greg.enns@stanford.edu
Journal of Inherited Metabolic Disease
|August 11, 2004
Summary
Dihydropyrimidine dehydrogenase (DPD) deficiency, a rare metabolic disorder, can cause severe neurological symptoms and distinct brain abnormalities. Early detection through metabolite analysis is crucial for understanding these rare neurological findings.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare, autosomal recessive disorder affecting pyrimidine metabolism.
- It can lead to diverse neurological symptoms in early childhood.
Observation:
- A case report details a 17-month-old girl with DPD deficiency presenting with encephalopathy, hypoventilation, developmental delay, and failure to thrive.
- Head MRI revealed prominent sulci and white matter/brainstem T2 prolongation, suggesting significant brain abnormalities.
Findings:
- DPD deficiency is associated with prominent cerebral white matter and brainstem abnormalities.
- The exact pathogenesis remains unclear, but anoxic stress may contribute to observed findings.
Implications:
- DPD deficiency should be considered in infants with unexplained neurological symptoms and specific brain imaging findings.
- Analysis of urine pyrimidine metabolites is recommended for diagnosis and understanding DPD's role in these MRI abnormalities.