0 having, looking like, or relating to a tuber (= the swollen underground stem or root of a plant such as a potato): --
Pathologically, tuberous scelorosis is a phakomatosis characterized by foci of abnormal tissue development (dysplasia) and by the appearance of developmental tumours (hamartomata) in brain, eyes, kidneys, heart and skin.
No patient had associated tuberous sclerosis.
Open biopsy was performed in all but 4 patients thought to have rhabdomyomata associated with tuberous sclerosis.
Tuberous sclerosis or epiloia is another condition where individuals have epilepsy, adenoma sebaceum and phakomata in the brain and ocular fundi.
This finding has major importance when counselling parents on the risk of a fetus having tuberous sclerosis.
The study of tuberous sclerosis and its association with autism has been particularly enlightening for understanding autism pathophysiology.
We suggest that these findings may be consistent with the well-known abnormalities in early brain development that determine tuberous sclerosis.
Although 30 to 60% of the patients with rhabdomyomas present with tuberous sclerosis19 as an associated disease, none of our patients had this association.
