Abstract
A clinical study on the central nervous system involvement was done in 4patients with congenital muscular dystrophy (Fukuyama type).
Pneumoencephalographic examination was made in 3 cases. It was found that these patients had ventricular dilatation and air accumulation at the outside of the ventricular system, especially at the insular portion, and the wide communication between the fourth ventricle and cisterna magna. These observations suggest the presence of atrophy of insular portion and cerebellar vermis.
The carotid angiography showed that patients had the medio-dorsal displacement of Silvius sulcus portion of the middle cerebral arteries, also suggesting the atrophy of the insular portion.
In the electroencephalographic findings, the resting record showed 10 to 16 per second fast activities for age in those 4 patients. The sleep record showed about 10per second regular activities in spindle form mainly at the frontal areas, and those activities seemed to be transformed into extreme spindles with aging.
The ophthalmologic examination revealed pathological findings such as optic atrophy (3 cases) and pigmentation at the peripheral part of the retina (1 case).
These central nervous system symptoms seemed to be specific findings in the Fukuyama type of congenital muscular dystrophy.
