A two-year-old child from Kashmir, who had gradually started losing his hearing and eyesight within months of birth, has recovered after undergoing a rare stem cell transplant at Sir Ganga Ram Hospital for a life-threatening genetic bone disorder.
The child had been seriously ill since infancy. His parents first noticed swelling in his stomach when he was three months old. A month later, he developed unusual eye movements. He had also suffered seizures soon after birth. Over time, he gradually lost both hearing and vision. Doctors later found that he was severely anaemic and had an enlarged spleen.
After detailed medical tests and genetic investigations in Delhi, doctors diagnosed the child with osteopetrosis linked to a mutation in the ‘CLCN7’ gene. The rare inherited disorder causes bones to become unusually hard and thick because the body cannot remove old bone tissue properly. Doctors said the disease can damage the bone marrow, nerves, eyesight and hearing, and may become fatal if not treated early.
According to paediatric haematologist-oncologist Dr Manas Kalra, the disease is extremely rare and difficult to identify in the early stages because its symptoms often resemble common childhood illnesses. He said delayed diagnosis can lead to permanent hearing, vision and nerve damage, especially in places where advanced genetic testing is not easily available.
“Osteopetrosis associated with CLCN7 mutation is an extremely rare condition. Without timely treatment, children can develop severe bone marrow failure, progressive neurological damage and life-threatening complications. Haematopoietic stem cell transplant remains the only curative treatment option,” Dr Kalra said.
Doctors carried out a stem cell transplant using stem cells donated by the child’s father. Dr Kalra said the procedure helps replace unhealthy bone marrow cells with healthy ones so the body can start forming and breaking down bone normally again.
The child responded well after the transplant and was discharged after 20 days in hospital. Six months later, tests showed the transplant had worked successfully.
Doctors said the child has since shown major improvement. His hearing and vision loss have stopped worsening, he no longer needs blood transfusions, and he is now active and gaining weight normally. His developmental progress has also improved.
Dr Kalra said successful treatment in such a young child through a father-donor transplant remains exceptionally rare and highlights the growing role of advanced stem cell treatment in rare childhood diseases once considered almost untreatable.
