A 10 year old boy, third in order of siblings and of normal birth weight, with no complications of pregnancy or child-birth, presented with epileptic fits since childhood along with delayed development and poor performance at school. He also had fleshy growths over his nose and cheeks since 2 years of age.
The epileptic fits involved his right arm during which he would fall unconsciousness followed by a period of confusion before full recovery. The fits occurred during sleep too. Under medication the patient had not suffered fits for the past 2 years.
Even though in fifth standard, he lagged behind in class. However, he was able to look after himself.
An MRI of his brain revealed multiple lesions in the brain with cysts lining the ventricles (the water channels of the brain) and multiple tubers (abnormally formed brain matter) protruding into the ventricles.
An ultrasound of his abdomen revealed polycystic disease of kidneys.
A diagnosis Tuberous Sclerosis was made.
As the patient was free of epileptic fits and none of the tubers in the brain were large enough to cause obstruction of the ventricles no surgical intervention was warranted.
However, as these tubers can transform into brain tumours known as Sub-ependymal Giant Cell Astrocytoma (SEGA) which can obstruct the ventricles (the water system of the brain) causing a rise of pressure in the brain. They may also cause focal symptoms (weakness of limbs, loss of sensation over the body etc).
The patient should be assessed yearly or earlier in case he deteriorates with a view to surgical intervention to remove the brain tumours if it is required.
However, Tuberous Sclerosis is a multi-system disease which may involve the brain, lungs, heart, kidneys and skin and requires a comprehensive multispecialty team approach to care for these patients.
Case submitted by : A group of Neurosurgeon India