The Evolution of Neurological and Neurophysiological Features in a Case of Krabbe's Globoid Cell Leucodystrophy

Abstract

Serial neurological, electroencephalographic and cerebral evoked response studies were per formed in a case of globoid cell leucodystrophy from 9 months through 6 years of age. The diagnosis was confirmed by a cerebral biopsy and later by an assay of galactocerebroside βA-galactosidase in leucocytes.
Tendon reflexes were rather exaggerated even in the late stage of illness, except for Achilles reflexes which were depressed and later aboli shed.
The results of nerve conduction studies indica ted the presense of a severe sensorimotor poly neuropathy.
There was no optic atrophy even in the late stage.
Tonic reflexes such as tonic neck and tonic labyrinthine reflexes were hyperactive in the stage II of Hagberg.
At 10 months of age, the EEG showed a normal basic rhythm during wakefullness, while sigma rhythms were poorly defined and few in numberduring sleep.
At 14 months of age, the basic rhythm showed a disorganization and slowing, with focal sharp and slow wave discharges in the left central area and localized superimposed fast activity during sleep. Sigma rhythms were absent.
The record showed a further disorganization of the basic rhythm over the next year.
The record taken at 2 years and 3 months disclosed a marked slow wave dysrhythmia with multifocal asynchronous sharp waves or spikes. Over the next 3 years, there was a gradual reduction of the amplitude of slow waves and a decrease of epileptiform discharges, although the record did not become isolectric even at 6 years of age.
Marked superimposed fast activity was seen at 3 years and 2 months and a definite asymmetry was noted at 5 years and 2 months.
Definite visual and auditory evoked responses were observed even at 6 years of age, although there were delayed latencies.