Golgi-Kopsch silver study of the brain of a patient with untreated phenylketonuria, seizures, and cortical blindness.

Abstract

This report describes the morphological changes observed in the brain of an untreated 27-year-old man with phenylketonuria, cortical blindness, and seizures. Golgi-Kopsch silver, cresyl violet, and hematoxylin and eosin stains were used to study cell structure and organization of the cerebellum, the lateral geniculate nuclei, the visual cortex, frontal cortex, and hippocampus. Extensive neuronal losses occurred in the right lateral geniculate nucleus (LGN), the visual cortex, and hippocampus. The left LGN, cerebellum, and frontal cortex retained neuronal components; there was a reduction in the number of dendritic processes on the Purkinje cells of the PKU subject. The loss of neurons in the LGN and occipital cortex is related to the blindness and the neuronal loss in the hippocampus is related to seizure activity.

• Authors: S Kornguth, E Gilbert-Barness, E Langer, L Hegstrand
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 44 Issue 4 Pg. 443-8 (Nov 01 1992) ISSN: 0148-7299 [Print] United States
• PMID: 1442885 (Publication Type: Case Reports, Comparative Study, Journal Article)

Topics

• Blindness (complications, pathology)
• Brain (pathology)
• Humans
• Male
• Neurons (pathology)
• Phenylketonurias (complications, pathology)
• Seizures (complications)