- Home
- Medical news & Guidelines
- Anesthesiology
- Cardiology and CTVS
- Critical Care
- Dentistry
- Dermatology
- Diabetes and Endocrinology
- ENT
- Gastroenterology
- Medicine
- Nephrology
- Neurology
- Obstretics-Gynaecology
- Oncology
- Ophthalmology
- Orthopaedics
- Pediatrics-Neonatology
- Psychiatry
- Pulmonology
- Radiology
- Surgery
- Urology
- Laboratory Medicine
- Diet
- Nursing
- Paramedical
- Physiotherapy
- Health news
- Fact Check
- Bone Health Fact Check
- Brain Health Fact Check
- Cancer Related Fact Check
- Child Care Fact Check
- Dental and oral health fact check
- Diabetes and metabolic health fact check
- Diet and Nutrition Fact Check
- Eye and ENT Care Fact Check
- Fitness fact check
- Gut health fact check
- Heart health fact check
- Kidney health fact check
- Medical education fact check
- Men's health fact check
- Respiratory fact check
- Skin and hair care fact check
- Vaccine and Immunization fact check
- Women's health fact check
- AYUSH
- State News
- Andaman and Nicobar Islands
- Andhra Pradesh
- Arunachal Pradesh
- Assam
- Bihar
- Chandigarh
- Chattisgarh
- Dadra and Nagar Haveli
- Daman and Diu
- Delhi
- Goa
- Gujarat
- Haryana
- Himachal Pradesh
- Jammu & Kashmir
- Jharkhand
- Karnataka
- Kerala
- Ladakh
- Lakshadweep
- Madhya Pradesh
- Maharashtra
- Manipur
- Meghalaya
- Mizoram
- Nagaland
- Odisha
- Puducherry
- Punjab
- Rajasthan
- Sikkim
- Tamil Nadu
- Telangana
- Tripura
- Uttar Pradesh
- Uttrakhand
- West Bengal
- Medical Education
- Industry
Mumbai: 2.5-Year-Old Child Underwent Cellular Therapy for a Rare Disorder - Joubert Syndrome
Mumbai: Dr. Pradeep Mahajan, Regenerative Medicine Researcher, StemRx Bioscience Pvt. Ltd. gives a ray of hope to a 2.5-year-old child suffering from Joubert syndrome, a genetic disorder that affects the area of the brain that controls balance and coordination known as the cerebellum. It is a rare complex genetic disorder, affecting approximately 1 in 80,000 newborns, causing varying degrees of physical, mental, and sometimes visual impairments.
Master Malhar Jadhav was unable to sit without support, had poor neck holding, did not have movements in fingers and hands, no speech development, muscle atrophy, and abnormal breathing patterns. Seeing these issues, the pediatric doctor suggested a genetic test by which he was diagnosed with the rare, Joubert syndrome.
After running from pillar to post for better medical treatment with the hope to cure the child, the parents were disappointed as most doctors said that there is no standard medical cure for this particular disease. However, while searching on social media, the parents came across Dr. Pradeep Mahajan and read about stem cell treatment, where similar cases were treated with good results. The parents consulted the doctor in December 2020. As they were satisfied with the doctor's consultation, they decided to consider stem cell treatment for the child.
Dr. Pradeep Mahajan, Regenerative Medicine Researcher, StemRx Bioscience Pvt. Ltd. says, "The brain does not develop normally in this genetic disorder. The cerebellar vermis, one of the parts of the brain, which controls balance and coordination, is either underdeveloped or absent in patients suffering from Joubert Syndrome. Moreover, the brain stem which is connected to the brain and spinal cord is also abnormal. This is the reason why these children are not able to sit or stand on their own."
Dr. Mahajan says, "While treating such rare neurological disorders, it is important to understand the complexity of the brain, as the syndrome affects each child differently, causing minor to severe symptoms. Cellular therapy can reduce the symptoms and improve quality of life."
"After the consultation, we explained to the parents about the stem cell treatment (sandwich protocol) along with neuro-rehabilitation. Following nine months of planned treatments and follow-up, the child has started showing results, and he is now able to sit up without support and can do minor neck movements. Because of this, his posture has improved quite well (he had a bent posture before treatment). Soham tries to grasp light objects and even tries to lift his food, all of which was not possible before treatment due to lack of movement in fingers. He has started eating semi-solid foods and his breathing ability has improved as well. We are seeing gradual improvement in each issue and are confident that he will continue to improve with time," said Dr. Mahajan.
Dr. Mahajan says that genetic screening is very important as early as possible in order to diagnose a disease and plan interventions. Generally, in brain-related conditions, early treatment leads to better results that can be maintained for longer periods. Because cellular therapy is based on natural healing mechanisms of the body, the growth period of the child is the best time to start the treatment—better outcomes can be achieved this way.
Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751