2-yr-old undergoes surgery for Joubert syndrome

Joubert syndrome is a rare genetic disorder in infants and children whose brains don't develop correctly

A two-year-old child suffering from Joubert syndrome got a new lease of life after doctors performed a stem cell treatment on him. Joubert syndrome is a rare genetic disorder in infants and children whose brains don't develop correctly. The condition affects approximately 1 in 80,000 newborns, causing varying degrees of physical, mental, and sometimes visual impairments.

Doctors said the patient is now stable, and after continuous treatment, the patient can do minor neck movements.

"The cerebellar vermis, one of the parts of the brain, which controls balance and coordination, is either underdeveloped or absent in patients suffering from this particular disease. Besides, the brain stem, which is connected to the brain and spinal cord, is also abnormal. The reason why is that these children are not able to sit or stand on their own," said Dr Pradeep Mahajan, Regenerative Medicine Researcher, StemRX Bioscience Pvt Ltd. Mahajan noticed the child, Soham Patil (Name Changed), such as inability to sit without support, poor neck holding, no movements in finger and hand, poor intelligence, no speech development, muscular atrophy and abnormal breathing patterns. Noticing this, he suggested a genetic test where he was diagnosed with a rare Joubert syndrome.

Treating a young patient required a cautious approach. Mahajan said it was crucial to identify the complexity of the brain, as it affects each child differently, from minor to severe symptoms.

"After the consultation program, we explained to them (parents) about the stem cell treatment and approached with the neurorehabilitation program and sandwich protocol. Following the nine months of continuous followup and treatment, the child has started showing results as he is now able to do minor neck movements," Mahajan said.