Tuberous Sclerosis

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

Tumour of the Brainstem ( the part that connects the brain to the spinal cord)

A 3 ½ years child suffered difficulty in walking which progressed to weakness of her right arm and leg ,slurred speech and a squint in her left eye. She was found to have a tumour of the brainstem ( the part that connects the brain to the spinal cord) and was treated with radiotherapy. The patient improved but deteriorated again about 7 months after radiotherapy. Now she was unable to walk with marked weakness of her right limbs, nearly incoherent speech and a squint of the left eye.

MRI of brain showed a large tumour in the pons (part of the brainstem) on the left side which was bulging towards the 4th ventricle (the water channels of the brain). MR tractography was done to assess the relation of the relay tracts with the tumour which revealed their absence/ destruction in the involved area, so explaining the patient’s symptoms.

Pre-op MR Tractography

The patient’s tumour was removed by microsurgical technique and postoperative scan showed satisfactory removal of the tumour. Postoperatively she showed smooth recovery and was discharged from hospital after she started eating adequate food.

Biopsy showed the tumour to be a malignant tumour (Pontine Glioma - WHO grade III).

Post-operative scan

                     Post-operative scan

The major advantage of surgery  in patients of tumours of the brainstem is that it reduces its bulk of the tumour and allows one to know the exact nature of the tumour as well. This helps to plan future radiotherapy/ chemo-therapy on the small amount of remaining tumour more effectively thereby translating into improved results. However surgery on the brainstem is very risky as the breathing & heart control centres are there along with the control of all four limbs and the head and neck. So surgery should be done only at centres with full facilities and experienced surgeons.