Neurodegenerative features in developmental brain disorders

The authors examined the occurrence of neurofibrillary tangles (NFT), senile plaques, spheroids in Goll's nucleus, grumose or foamy spheroid bodies (GFSB) in the basal ganglia, and hyaline inclusions in the brainstem nuclei in 62 patients under 40 years of age with non-progressive developmental brain disorders. Five cases had demonstrated NFT, which tended to be confined to the subcortical nuclei, whereas no senile plaques were identified in any case. Spheroids in Goll's nucleus were significantly increased in three cases of congenital brain anomalies and five cases of perinatal hypoxic ischemic encephalopathy. The GFSB-positive subjects were clinicopathologically divided into two subgroups consisting of four cases of congenital malformations, which were also associated with severe respiratory failure, and six cases of perinatal brain disorders in which the basal ganglia were severely affected. Eosinophilic intracytoplasmic inclusions, unlike the hyaline inclusions of the Lewy type, were found in the substantia nigra and/or locus ceruleus in two subjects. It is speculated that a variety of mechanisms, including accelerated aging and anoxic insults, may be involved in the increased occurrence of NFT and/or spheroids in non-progressive developmental disorders. A detailed investigation is useful to clarify the neuronal changes secondary to the brain damages early in development.