The Fudan pediatric team implanted electrodes deep in the brain to improve symptoms. An eight year old girl suffered from a rare disease and sought medical attention for five years without success
An eight year old girl suffers from rare myoclonic dystonia syndrome and has been seeking medical attention for five years without success. Finally, with the collaborative assistance of the Neuroregulation Children's Center and a multidisciplinary team at the National Children's Medical Center Fudan University Affiliated Pediatric Hospital, deep electrodes were precisely implanted to alleviate the problem of muscle tone disorders in girls. Recently, the girl recovered well after surgery and was discharged smoothly.
From the age of 3, Hua Hua began to experience involuntary shaking of her limbs and movement disorders, gradually unable to walk normally. For the past five years, her parents have taken her to various places for diagnosis and treatment, and genetic diagnosis suggests the presence of SGCE gene mutations. It is reported that this gene mutation is associated with myoclonic dystonia syndrome and belongs to primary dystonia type 11. Despite attempting multiple medication treatments, the child's symptoms have not improved significantly.
Expert introduction: MDS is a rare disease, with a incidence rate of about 2/1000000. Its clinical manifestation is mainly myoclonus. Different degrees of dystonia are a major persistent disease that endangers the physical and mental health of children. At present, there is no effective drug treatment.
In August of this year, holding the last glimmer of hope, my parents brought Hua Hua to Fudan Children's Hospital to seek advice from Professor Wang Yi in the Department of Neurology. After detailed consultation and communication with parents, experts suggest undergoing deep brain stimulation surgery for treatment. Professor Wang Yi leads the Children's Neuroregulation Center, with a multidisciplinary evaluation team conducting detailed clinical evaluations. The director of neurology, Zhou Shuizhen, and the deputy chief physician, Zhou Yuanfeng, evaluated the child's movement disorders and functional impairments according to the scale, confirming that the child has severe movement and functional impairments, and meets the criteria of drug-resistant MDS. Based on a review of numerous domestic and foreign literature, DBS surgery is recommended to improve the condition.
The so-called DBS surgery was born in the 1990s and is increasingly being used in the treatment of drug-resistant motor disorders. DBS surgery is a means of reversible regulation of the brain. Surgery involves implanting electrodes into specific brain regions and sending electrical pulses of a certain frequency to regulate brain function, achieving the goal of improving or curing diseases.
On August 16th, Professor Li Hao, the director of neurosurgery, and Director Qiao Zhongwei, the director of neuroimaging, used preoperative multimodal neuroimaging fusion technology and surgical robots to accurately locate targets. After that, Professor Li Hao accurately implanted deep electrodes into the bilateral globus pallidus deep in the child's brain, and after surgery, the machine was turned on and stimulation parameters were adjusted. After the surgery, Hua Hua recovered well and was able to take confident steps. A smile reappeared on her face.
It is reported that the "Neuromodulation Children's Clinical Diagnosis, Treatment and Research Center" of Fudan Pediatrics Hospital, relying on the National Children's Medical Center and the National Neurological Center of Huashan Hospital, and in conjunction with the National Engineering Research Center for Neuromodulation of Tsinghua University, took the lead in carrying out more than 100 neuromodulation operations in children's specialized hospitals, including vagus nerve stimulation, DBS surgery, and so on, which will benefit more children in the future.
