What is tuberous sclerosis?
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).
INDIVIDUAL WITH TUBEROUS SCLEROSIS IS AFFECTED DIFFERENTLY. SOME
INDIVIDUALS ARE TOTALLY UNAFFECTED WHEREAS SOME PEOPLE ARE MORE
Q2). How common is tuberous sclerosis?
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.
How does a person with tuberous sclerosis present?
The disease spectrum of tuberous sclerosis is very diverse. Some
may present with a very severe form whereas some may be totally
sclerosis primarily affects the brain, skin, eyes, kidneys, heart
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).
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.
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.
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.
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
Kidney disorders are seen in 40
80 percent of patients with Tuberous sclerosis. They usually cause
problems in the 2nd
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.
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.
It causes growth in the retina of the
eye called retinal hamartoma or phakoma.
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updated on 14-05-2001