Article
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
Pediatric pathology - 1 Jan 2000
Takashima S, Chan F, Becker L E
Abstract excerpt
The neuropathology of a 2 1/2-year-old patient with dihydropteridine reductase deficiency showed diffuse demyelination throughout white matter and spongy vacuolation in the long tracts of the brain stem. These changes are characteristic neuropathologic observations in untreated phenylketonuria. In addition, extensive neuronal loss, calcification and abnormal vascular proliferation were noted in the cerebral...
Topics
- Cerebral Cortex
- Deficiency Diseases
- Dopamine
- Female
- Genetic Variation
- Golgi Apparatus
- Humans
- Infant, Newborn
- Phenylketonurias
- Serotonin