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Neurosurgery, General Hospital
Deep brain stimulation (DBS) is an effective treatment for people with a movement disorder, such as dystonia, Parkinson's, myoclonic movements, tremors, or tics. At Vall d'Hebron University Hospital we use this treatment in children and adolescents with forms of dystonia and other movement disorders.
The treatment consists of placing electrodes in the globus pallidus nuclei of the brain, which will perform a pacemaker function to modulate the abnormal 'beat' of the neurones. The goal of this neurosurgery is to reduce undesirable muscle spasms (forms of dystonia, myoclonic movements, tremors) and improve voluntary motor activity during manipulation, walking, and coordination of movements in general, so that the patient's quality of life improves.
The system is implanted under the skin and is not visible to others. The only visible scar is on the skin of the abdomen, where the battery is implanted.
The team that performs this intervention at Vall d'Hebron Hospital is made up of experts in paediatrics and neurofunctional surgery in our centre and the Germans Trias i Pujol Hospital.
The device is made up of three components:
It is important to use the device well and to charge the battery periodically. Otherwise, if the stimulator were left without power, the system would shut off and the symptoms that had improved with electrical stimulation would reappear.
At Vall d'Hebron University Hospital, deep brain stimulation (DBS) is performed in infants and adolescents when medication has not yielded good results, and once the professionals decide that the risk-benefit relationship is favourable for the specific patient, individually.
The intervention is carried out in children over 6 years of age who suffer from moderate or severe intensity movement disorders with a negative impact on quality of life, and who do not present other associated severe neurological problems.
In order to carry out the intervention, before the surgery a magnetic resonance scan of the patient is taken. Then, on the day of surgical intervention, the neurosurgery team plans the coordinates for the electrodes in the brain nucleus that is intended to be stimulated, using the patient's brain MRI images and neuro-navigation software. At the same time, with the patient anaesthetised in the operating theatre, a stereotaxic frame is placed on the head.
A computed tomography (CT) scan is then performed on the patient and the images of the MRI and CT are merged to obtain the coordinates to place the electrodes.
Through two frontal incisions, the electrodes are placed in the brain nucleus to be stimulated, and the extension connecting the electrodes to the neurostimulator (battery) are placed under the skin behind the ear to the abdomen.
Once the system is implanted, a new CT is performed to check electrode localization and rule out complications.
The intervention is carried out by a team of professionals led by a neurosurgeon specializing in stereotaxic surgery. It is considered a 'minimally invasive' operation with very low risks. The possible difficulties are as follows:
On the third day after surgery, the neurostimulator is activated and stimulation parameters programmed. The beneficial effects of electrical stimulation take weeks to appear. Normally the full benefits are obtained around 12 months after the intervention.
When neurostimulation is effective, infants regain mobility, improve manipulation and autonomy in their day-to-day life, can write and paint, eat independently, walk, and run again. Usually, it is possible to reduce or withdraw the medication that the patient took to control the undesirable movements before the intervention. However, cerebral neurostimulation is compatible with other medical treatments.
It is important to understand that this therapy improves symptoms, but does not cure the disease that produces them. It also does not improve the mental health problems that the patient may have, although when stimulation is very effective and improves motor symptoms and pain, it can produce very positive changes in the quality of life of the patient.
In their day-to-day existence, once stimulation is adjusted, the patient has a normal life. They can participate in sports activities and have a great deal of autonomy. Of course, this treatment does require medical monitoring, and the patient must come in for a check-up at least once a year.
The patient will have no strange feelings caused by stimulation, but when changes are made during medical visits they may experience a mild and transient sensation of tingling or muscle tension.
This is an effective treatment for years, although some parameters may need to be adjusted if the disease worsens.
In cases where no improvement occurs, it is possible to turn off the neurostimulator without any further surgery. Neurostimulation is a reversible procedure, and once stimulation is turned off, the patient returns to their pre-intervention medical condition.
Children and adolescents carry a rechargeable neurostimulation system. Patients need to charge the battery once a week, for about 1 or 2 hours. It is a very simple system that children can do without the need for help. The system is charged by telemetry, by direct contact with the region of the abdomen where the battery is implanted, without plugging any power cables in.
The device has a half-life of approximately 20 years. After that, it would be necessary to change the implanted battery via local surgery.
To facilitate communication with other people regarding the precautions that must be followed, the patient is given a card explaining about the stimulation device implanted, where surgery was performed and who the reference doctors are.
During their day to day existence patients must take care to avoid exposing the system to electromagnetic fields that may interfere with the stimulation apparatus.
In hospitals:
Dystonia is a neurological disorder characterised by involuntary muscle contractions that cause repetitive movements and tortuous and painful stances every time the patient makes a learned movement, such as walking or speaking.
Dystonia that is detected in childhood can progress rapidly and interfere in the development of the child's language and mobility, causing a physical disability that will affect them throughout life.
Dystonia is a very heterogeneous disease, which can occur for a variety of reasons:
Due to its incidence, dystonia is considered a rare disease.
Dystonia in childhood can occur in isolation or associated with other neurological and development problems. It can cause difficulty in everyday tasks such as walking, speaking, feeding oneself and taking care of personal hygiene.
When presented in isolation it is called primary dystonia and often has a genetic origin. Children who suffer from it do not usually have other health problems and their neurological development is normal. At first it manifests itself in actions such as walking, running, or writing and, later, can spread to other parts of the body and cause widespread dystonia.
Myoclonic dystonia is one of the most frequent hereditary forms of dystonia in childhood. It is characterised by the presence of sustained (dystonic) and abrupt (myoclonic) muscle contractions and psychiatric disorders such as anxiety, depression and obsessive-compulsive features. The first symptoms appear in childhood and affect the lower limbs of children, who have difficulties walking, running and with sports. This disease also affects the social relationships of these children, who have problems speaking in public or eating and drinking with friends.
Dystonia can also be associated with other neurological problems, such as spasticity, ataxia, weakness, delay in neurological development and intellectual disability. In this case we call it secondary dystonia and it is necessary to rule out neurometabolic and neurodegenerative causes.
It affects children, adolescents, and adults of all ages.
First of all, patients are subjected to a series of clinical, metabolic, neurophysiological and neuroimaging studies to classify the type of dystonia, before carrying out genetic studies. In patients with myoclonic dystonia, first of all, a Sanger sequencing study is carried out to determine the gene that causes it, and in the other patients, a complete family exome sequencing(parents and patient) is carried out or the index case (patient) based on the DNA samples available.
Being a rare and very heterogeneous disease it is difficult to reach a correct diagnosis and treatment plan. It is important to distinguish hereditary dystonia from childhood cerebral palsy, caused by brain damage at birth, since its diagnosis has very important consequences for treating the disease later.
A diagnosis in time decreases the need to carry out more diagnostic tests, making it possible to form a prognosis and to advise families on avoiding future diseases. It also has a very positive psychosocial impact on the patient and family. And most importantly, an exact diagnosis of the cause that generates the dystonia makes it possible to guide the best possible treatment for each patient, in what we call personalised medicine.
Dystonia in childhood is progressive and debilitating, but can be prevented with early diagnosis and the use of specific therapies depending on the identified genetic defect.
Levodopa is the treatment of choice in dopa-sensitive dystonia, caused by a defect in the synthesis of dopamine. Botulinum toxin is used to control focal dystonia. In the case of widespread dystonia, different drugs are used to decrease tremors, muscle tone, and painful spasms. And in some cases of paroxysmal dystonia, which is characterised by brief and repetitive involuntary movements during the night, antiepileptic drugs are used.
An intrathecal baclofen pump administers liquid medication through a device that is placed under the skin, and is used to treat generalised secondary forms of dystonia. It reduces pain, decreases muscle tone and spasms. It is a treatment we call symptomatic and palliative, since it does not improve the motor function of the patient.
Deep brain stimulation or globus pallidus stimulation, two electrodes are placed in the globus pallidus using a stereotaxic technique, it is the treatment of choice in primary dystonia, especially if they are widespread and do not respond to conventional medication. In these cases children can recover the function of the area affected by dystonia and improve their quality of life. It can also be useful in patients with secondary forms of dystonia, although its effectiveness is less than in primary forms of dystonia.
Performing genetic testing is the best prevention to avoid having more children affected by this disease in the same family.
Campanya MoutePerLaDistonia
Associació de Lluita contra la Distonia Mioclònica a Espanya
Associació de Malalties Neurodegeneratives amb Acumulació Cerebral de Ferro
Associació GNAO Espanya
A tumour is an abnormal growth of tissue. In the case of orbital tumours, this growth is located in the tissues around the eye, which may be muscles, bones, fat, the lacrimal gland, nerves and blood vessels. They are rare tumours of several different types that may appear at any age. Orbital tumours may be benign or malignant. Benign tumours may cause pain due to compressing or displacing the different structures in the eye socket. Malignant tumours, on the other hand, as well as spreading to neighbouring tissue, may produce metastasis in other unconnected organs or lymphatic nodules.
The most common symptom is a protrusion of the eyeball out of its socket, known as “exophthalmos”. However it can also cause loss of vision due to compression of the optic nerve, double vision, pain and can limit the movement of the eyeball.
In some cases, tumours may be present in the eye socket for an entire lifetime with no symptoms.
It is hard to know the exact number of people affected by orbital tumours as it is a rare kind of tumour that includes several variants.
Benign tumours are the most common; capillary haemangiomas and dermoid cysts in children, and cavernous haemangiomas in adults.
The most common malignant tumours in children include rhabdomyosarcoma, and in adults lymphoma cancers of the lacrimal gland and metastases.
Imaging studies (CT and nuclear magnetic resonance scans) allow precise location of the tumour, its size to be measured and certain biological characteristics to be known. This information, together with the patient's age and the speed of the tumour's growth, enables an initial assessment of whether or not it is malignant.
A definitive diagnosis is made after a biopsy of part or all of the tumour.
In most cases, the main treatment is surgery to remove the tumour and therefore avoid the damage it may cause if left to grow within the eye socket by compressing or displacing the eyeball and other structures.
Modern-day orbital surgery techniques allow extraction of the tumour by making small incisions in areas that are hidden or not very visible. This enables faster postoperative recovery.
In the case of malignant tumours, different combinations of surgery, radiotherapy and chemotherapy are used. It should be noted that regular check ups are needed after treatment.
Where there are no symptoms, observation and monitoring of the speed of growth is usually sufficient.
There are currently no preventative guidelines to reduce the risk of orbital tumours.
The mission of the Neurosurgery Department is to guarantee excellence in care, education and research, with an international outlook. We have a particular focus on the needs and preferences of patients with diseases of the nervous system that require surgical treatment.
At the Neurosurgery Department, we apply the most advanced technologies and a multidisciplinary approach in a context that allows us to train neurosurgeons with strong ethical and moral values. All this, as part of the public health system that is accessible to all citizens.
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