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As part of a longitudinal follow-up program a single case analysis of the history of 53 children with a birthweight of less than 1501 g, who had developed cerebral palsy, was performed. In 17 children (32%) a definite explanation for the neurological impairment and in another 17 (32%) at least a possible explanation could be found. In 19 of the 53 children (36%) the history was uneventful and did not offer a causal event. The common documentation in obstetric and pediatric case files left the cause of cerebral palsy undetected in one third of the cases.

A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. While a lysosomal disease could not be verified, his clinical findings were compatible with infantile neuroaxonal dystrophy, the diagnosis of which was electron microscopically established by demonstrating typical enlarged axonal terminals in rectal biopsy tissue.

The clinical course of the early onset gangliosidoses can be explained on the basis of the developmental time course of different brain structures and functional systems. In particular, the maturation of the four basic motor control systems--spinal cord, brain stem and cerebellum, basal ganglia, cerebral cortex--determines the appearance of certain motor deficits. In late onset GM2 gangliosidoses, however, regional preference of the storage process has to be assumed in order to explain certain characteristic features of the disorder. An attempt is made to explain cellular dysfunction in GM2 storage disorders on the basis of developmental defects and/or destruction of the endoplasmatic reticulum and Golgi apparatus distortion of the neuronal geometry. Hyperirritability and epilepsy are possibly due to a dysequilibrium between excitatory and inhibitory postsynaptic influences caused by the distortion of the synaptic geometry on the nerve cell surface. Again, the clinical appearance of hyperirritability and the type of epilepsy are dependent upon the developmental age of the affected nervous system.