Brain surgery helps 7-year-old boy with movement disorder

For four years, Junnar resident Shyama* watched her son Soumil* repeatedly trash his hands and legs—sometimes on the hard floor. Soumil has dystonia, a movement disorder in which the muscles contract in twisting motions that aren’t in the patient’s control.
It wasn’t always so bleak. Shyama remembers Soumil talking non-stop as a three-year-old. As the disorder progressed, he lost his ability to stand, sit and speak coherently.His tongue seemed stiff, his hands and legs had wounds due to the involuntary trashing and his face seemed frozen. “His eyes were the only part spared the disease’s ravages,’’ she said.
Then things changed in May. Soumil was fitted with electrodes during a deep brain stimulation (DBS) surgery carried out at SRCC Children’s Hospital, Haji Ali, in March. DBS involves implanting electrodes within areas of the brain that produce electrical impulses; the external stimuli rewire the brain in such a way that the disorder’s effects are nullified.
Soumil’s ill-health began after a severe fever when he was three. There was tightness initially in his right leg and then the left leg, causing him to walk on his toes. “We thought he was being playful,’’ said Shyama. But, within six months, the tightness spread to all muscle groups, resulting in severe disability.
For a year, the family travelled 100km away to Pune for help. “We then started coming to a hospital in north Mumbai where he was diagnosed with dystonia, but no medicine seemed to help,’’ she said.
This is when a family friend suggested SRCC Children’s Hospital. “The minute we met neurologist Dr Anahita Udwadia Hegde, she said a rare mutation could have resulted in a form of dystonia that could only be treated with brain surgery,’’ she said. Genetic testing confirmed a mutation in the KMT2B gene, responsible for isolated dystonia (DYT28).
Dr Hegde said, “KMT2B dystonia responds well to DBS, which is known for treating Parkinson’s disease in adults but its application in children is rare.” Soumil’s surgery was challenging due to his low weight (11.4 kg) at 7.5 years, a consequence of his inability to eat properly.
The size of the child and the need for appropriate surgical equipment added to the complexity. “Our prior experience with a successful DBS procedure on a four-year-old, one of the youngest children globally to undergo this surgery, gave us confidence to proceed,” said pediatric neurosurgeon Dr Milind Deogaonkar. Soumil is the only child to have got DBS for isolated dystonia (DYT28).
In Soumil’s case, changes were noticed soon after the DBS pulse generator was switched on in May. He is now completely verbal, sits up on his own and is trying to stand up on his own. “Best of all, the involuntary trashing movement of his arms are gone,’’ said the mother, a primary school teacher who raised funds through donations for the operation.
Soumil’s dystonia severity score has improved dramatically from 28/40 to 8/40. His speech is almost normal and he is eager to go to school. “As soon as monsoons end, I will send him to school. Doctors have said he can lead a normal life with DBS,’’ she added.

Deep brain stimulation (DBS) is a process in which electrodes are implanted within the brain.
The electrodes produce electrical impulses that affect brain activity in a manner that the effects of certain medical conditions are nullified. This is called neuromodulation.
The amount of stimulation is controlled by a pacemaker-like device placed under the skin in the upper chest.
A wire travelling under the skin connects the pacemaker to the electrodes in the brain.
*Deep brain stimulation doesn’t cure conditions. When the pacemaker is switched off, the
symptoms are likely to return.
*Pediatric DBS use has been increasing, especially for treatment of dystonia, when medical
treatment is ineffective or poorly tolerated.