Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
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.
Schmidt
H
H
Department of Radiology and Pediatrics, Westfälische Wilhelms-Universität, Münster, FRG.
Ullrich
K
K
Korinthenberg
R
R
Peters
P E
PE
D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology*; D002648:Child; D005260:Female; D005917:Globus Pallidus / Q000000981:diagnostic imaging; D006801:Humans; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias; D011699:Putamen / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
D010649:Phenylalanine; D009247:NADH, NADPH Oxidoreductases