1. The neuropathological findings in a boy suffering from progressive muscular dystrophy and mental retardation with EEG abnormalities (5.6 c/s slow wave bursts in all leads and spikes in the right parietal and occipital areas) were presented. Two brothers of the patient also had progressive muscular dystrophy, mental retardation and EEG abnormalities. Moreover, their mother was mentally retarded.
2. Macroscopically, the cerebrum was rounded at the frontal lobe, but other areas of the brain were normal.
There was no particular histological finding corresponding to the clinical findings of mental retardation and EEG abnormalities.
3. There was a marked dysplasia of the spinal cord (the lower cervical cord, the thoracic and lumbar cord).
4. The meaning of the malformation of the GNS, mental retardation and EEG abnormalities in progressive muscular dystrophy was briefly discussed in comparing with these cases reported in the literature.