Basal Ganglion Calcification in Hyperphenylalaninemia Due to Deficiency of Dihydropteridine Reductase

Pediatr Radiol. 1988;19(1):54-6. doi: 10.1007/BF02388415.

Abstract

The disease course and therapy of a nine-and-a-half-year-old boy with hyperphenylalaninemia due to a dihydropteridine reductase deficiency are reported. Clinically, there is a marked mental retardation and complex basal ganglion symptoms. The cranial computed tomographic investigation shows bilateral, symmetrical, comma-shaped calcifications in the globus pallidus and the putamen of the lentiform nucleus. The cause of these basal ganglion calcifications remains unclear. Lowering of serum and CSF folic acid levels could not be detected, in contrast to cases with the same enzyme defect described previously.

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia Diseases / diagnostic imaging
  • Basal Ganglia Diseases / etiology*
  • Calcinosis / diagnostic imaging
  • Calcinosis / etiology*
  • Child
  • Female
  • Globus Pallidus / diagnostic imaging
  • Humans
  • NADH, NADPH Oxidoreductases / deficiency*
  • Phenylalanine / blood*
  • Phenylketonurias*
  • Putamen / diagnostic imaging
  • Tomography, X-Ray Computed

Substances

  • Phenylalanine
  • NADH, NADPH Oxidoreductases