How does a person with tuberous sclerosis present?
A3). The disease spectrum of tuberous sclerosis is very diverse. Some may present with a very severe form whereas some may be totally unaffected. Tuberous sclerosis primarily affects the brain, skin, eyes, kidneys, heart and bones. Brain -Due to growth of tuber like structures, these patients may have fits (convulsions), mental retardation, behavioural problems and learning disability. Infants may develop a peculiar kind of fit called salaam fits (infantile spasms). These fits appear as if they are bowing down in a salute. As the child grows the fits may change or sometimes just stop all together. Learning disabilities are also quite common. By the age of 2 years, it is quite clear whether a child with tuberous sclerosis will have developmental problems or not. Tubers may block the flow of the brain fluid (CSF) causing retention of fluid in the brain (hydrocephalus). It may present as headache, vomiting, walking problems and worsening of fits. Skin The earliest sign to develop would be
