Q1). What is tuberous sclerosis?
A1). Tuberous sclerosis is a complex genetic disorder (a disease that occurs due to some defect in the genes) that is characterized by skin lesions, nervous system affectation and renal involvement primarily. The name is derived from tuber like growths on the brain that become hard. These tubers are seen as white areas on a CT Scan of the brain. These abnormal growths can affect any organ of the body (even the eyes, kidneys, heart and the lungs).
EVERY INDIVIDUAL WITH TUBEROUS SCLEROSIS IS AFFECTED DIFFERENTLY. SOME INDIVIDUALS ARE TOTALLY UNAFFECTED WHEREAS SOME PEOPLE ARE MORE SEVERELY AFFECTED.
Q2). How common is tuberous sclerosis?
A2). Out of every 6000 newborns, one may have tuberous sclerosis. More than 1 million people around the world are known to have tuberous sclerosis. These may still be many undiagnosed cases and mild forms of the disease.
Q3). 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 white skin patches especially on the limbs and the trunk. They cause no problems and disappear later in life. As the child grows older, a characteristic facial rash known as adenoma sebaceum (facial angiofibroma) develops across the nose and the cheeks. At first, the rash starts as pinpoint spots which later form small bumps. Later in life, small nodules of skin form around the fingers or toe nails. Shagreen patches appear on the lower back as raised patches of skin with an orange-peel texture.
Kidneys : Kidney disorders are seen in 40 80 percent of patients with Tuberous sclerosis. They usually cause problems in the 2nd and 3rd decade of life. Tumours of the kidney ( angiomyolipoma ) and cysts are the most common lesions seen. These may cause bleeding from the kidney either into the urine, around the kidney or in the abdomen. There may be abdominal pain , fever, anemia ( low haemoglobin ) and general illness. Kidney failure is rare. Polycystic kidney disease may also be seen. It causes high blood pressure and deteriorating kidney function. There are so many cysts that compress the normal kidney and ultimately deteriorate renal functions. Hence regular monitoring is required.
Heart : There are benign rare growths in the heart known as rhabdomyomas. They tend to progressively grow smaller and disappear after the first year of life. A child with tuberous sclerosis may develop heart failure, which may present itself as shortness of breath, fainting spells (not due to fits) and swelling of ankles.
Eyes : It causes growth in the retina of the eye called retinal hamartoma or phakoma.
Q4). Why does tuberous sclerosis occur?
A4). Tuberous sclerosis is a genetic disorder (due to errors in the genes). Children have a 50% chance of inheriting tuberous sclerosis if one of the parents have this condition. However 2/3rd of the cases are due to spontaneous genetic errors, the cause of which is still a mystery.
Q5). How is a patient with Tuberous sclerosis diagnosed?
A5). Since the effects of Tuberous sclerosis are variable, the condition can be diagnosed anytime from infancy to adulthood. By the age of 5 10 yrs, it is possible to predict the extent of the disease and problems that can occur later.
A classical picture of Tuberous sclerosis is mental retardation, epilepsy and adenoma sebaceum. Depending upon the age of the child, the following tests are done:-
From the above tests, your doctor will be able to tell you whether you child has tuberous sclerosis.
Q6). How is a child with Tuberous sclerosis managed?
A6). The following should be especially taken care of :-
Q7). What is the prognosis of a child with tuberous sclerosis ?
A7). Most people affected by tuberous sclerosis have a normal life span. Over 50% of people with tuberous sclerosis are intellectually normal. Remainder have learning disabilities to a greater or lesser extent.
Q8). Is there a cure for tuberous sclerosis?
A8). Unfortunately, there is no cure for tuberous sclerosis but treatment is available for various related symptoms.
Q9). Why does tuberous sclerosis affect so many body organs?
A9). In tuberous sclerosis, there is a growth of normal body tissue in a disorganized way (hamartomas). They interfere with the functioning of the organ in which they are growing. When the person becomes an adult, the growth of the organ and the hamartoma stops. As a result, most patients have a normal life span. However, there may be occasional serious problems (kidney, lung or brain tumours) that need to be dealt with later in life.
Q10). What are the chances that my next child will have tuberous sclerosis?
A10). In 2/3rd of the cases, tuberous sclerosis is a spontaneous mutation and no one else in the family is affected. There are no definitive tests to diagnose tuberous sclerosis in the unborn. Sometimes echocardiography of the babys heart during mid pregnancy may provide evidence of lesions but gives no indication of how severely the baby is affected.
If one of the parents have Tuberous sclerosis , the chances of Tuberous sclerosis in the next pregnancy is 50%.
National Tuberous Sclerosis Association (Tuberous Sclerosis Alliance)
The Tuberous Sclerosis Association online
Last updated on 14-05-2001