Abstract
Five cases with tuberous sclerosis in infancy were reported. Four cases with infantile spasms and mild psychomotor retardation showed multiple hypopigmented cutaneous macules and three of them had retinal phacomas, too. Pneumoence-phalography revealed subependymal nodules in lateral ventricles in all of the four cases. The remaining one case suffered from generalized seizures as well as focal convulsions since neonatal period and was markedly retarded. The case showed double hemiplegia with severer involvement on right side and questionable papilledema on left side, and hypopigmented macules were visualized with Wood's lamp. Pneumoencephalo-graphy revealed deformity of left lateral ventricle and cerebral angiogram showed space-occupying lesion in left cerebral hemisphere. It was diagnosed as tuberous sclerosis with biopsy specimen of the cerebral lesion.
In retrospective study in other 11 cases with tuberous sclerosis in older age group, we found hypopigmented macules in 9 cases which were already present at birth or appeared in early infancy.
It is important for early diagnosis of tuberous sclerosis to find multiple hypopigmented macules and the fundoscopic abnormalities such as retinal phacomas. Pneumoencephalography is also useful diagnostic procedure because of detection of subependymal nodules in ventricles.
