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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
Cerebral palsy is a group of disorders affecting movement, posture and muscle tightness, caused by damage to the developing brain (in children up to approximately three years old). The severity of the symptoms varies widely: some patients can walk and lead independent lives, while others are more severely disabled. There may also be associated intellectual disabilities, problems with vision or hearing, problems when eating, seizures, etc.
These can be categorised according to the moment when the brain damage occurs: prenatal, perinatal and postnatal. Currently, the most frequent causes are: extremely premature birth, hypoxia of the brain during birth, and paediatric stroke.
In babies, we see slower psychomotor development, with difficulties in movements or activities. We usually see spasticity, which could be defined as increased tightness in a certain group of muscles. There are major musculoskeletal abnormalities, including spinal deformity, hip dislocation and ankle equinus.
Fundamentally clinical diagnosis, depending on the patient's history. But confirmation is needed by additional imaging tests such as cranial ultrasound and magnetic resonance imaging. However, these can be normal.
Unfortunately, there is no cure for cerebral palsy. However, we can deal with the pathology in different ways, both in prevention and in treatment:
No specific prevention is possible.
Apart from the physiotherapy and/or occupational therapy which can be offered or recommended to these patients, physical exercise can always be suggested, depending on the abilities of each person. We also recommend stretching certain muscle groups and trying to correct posture.
The Child Rehabilitation and Cerebral Palsy Unit is staffed by doctors specialising in caring for these patients, physiotherapists and occupational therapists.
We work with other specialist units, such as Neuropaediatrics, Paediatric Neurosurgery, Orthopaedic Surgery, and Paediatric Traumatology. We are in direct contact with all the paediatric services: Neonatology, Oncohaematology, Nutritional Support, etc.
There are two very different types of otitis, both of which children can suffer from: external otitis and middle ear infection.
External otitis affects the auditory canal and is above all related to exposure to swimming pool, bath and fresh water in general. It is most common in summer.
Middle ear infection is related to infections in the upper respiratory tracts, and can be self-limiting (it resolves itself in most cases) or purulent requiring antibiotic treatment It is most common in winter.
b) Middle ear infection: there is usually a history of catarrh in the respiratory tract, suddenly accompanied by pain (in small children this can manifest as intense crying), with or without fever. It does not hurt when the external ear is touched or moved. Sometimes the ear drum may be perforated due to inflammation and pressure, which may result in a purulent secretion, generally associated with the pain (and crying) disappearing.
In both cases, diagnosis is clinical: medical history, assessing symptomatology and exploration using an otoscope.
Otoscope exam. Occasionally, if there is suppuration, cultivation of the pus.
Kawasaki disease is a rare condition that causes blood vessel inflammation. It mainly affects breastfeeding babies and children under the age of five.
Diagnosis is based on clinical examination. Treatment consists of administering aspirin and immune globulin intravenous (IGIV).
To avoid possible heart sequelae, early diagnosis and correct treatment are essential.
Kawasaki disease is a form of systemic vasculitis that affects small and medium-sized blood vessels. The main complication of the condition is the formation of aneurysms in the coronary arteries. It is an acute and self-limiting inflammatory process.
1. Avoid using soap as this may cause the skin to dry further. Wear soft, flannel or cotton clothing.
2. Massage the skin with neutral hydrating cream.
3. Stop the child rubbing their eyes and protect them from light due to light sensitivity.
4. Ensure the child gets plenty of rest as it reduces irritability.
5. Apply passive exercises with soft toys and calm games.
Kawasaki disease is the main cause of acquired heart disease in children in developing countries. Greater incidence of the disease is observed in Asian countries, but distribution is currently universal and it is found in all races. It is more common in middle and upper socio-economic classes and in winter and spring.
Diagnosis of Kawasaki disease requires the presence of a fever for five days along with four criteria, or the presence of fever with three criteria if there is no other cause. The criteria are: bilateral conjunctival injection; alteration of labial mucosa and/or pharynx or “strawberry” tongue; alterations in hands and feet; skin rash; lymph nodes in the neck greater than 1.5 cm.
There is no specific laboratory test to diagnose this disorder.
Given that the symptoms of Kawasaki disease are non-specific and common to other conditions, a differential diagnosis must be conducted to correctly assess the treatment required.
The aim of treatment is to reduce inflammation in the myocardial coronary arteries, alleviate the symptoms and prevent clotting by inhibiting platelet aggregation. Immune globulin intravenous allows the disease to be cured in most cases and avoids heart sequelae. Treatment with acetylsalicylic acid (aspirin) is also used due to its anti-clotting properties.
Treatment with immune globulin is effective in reducing symptoms and avoiding coronary aneurysms. It is essential to start treatment between the fifth and tenth day of the disease.
Bronchiolitis is an infection that causes the small respiratory passages in the lungs (bronchioles) to become inflamed and mucus to build up in them. This blocks the flow of air, making it difficult to breathe.
It happens more often in babies because their airways are smaller and more easily blocked than in older children.
Bronchiolitis is not the same as bronchitis, which is an infection in the larger and more central airways that typically causes problems in adults.
Human respiratory syncytial virus (HRSV) is the most common cause of lower respiratory tract infection in babies and small children and it is one of the viruses that causes fever in children.
When it infects the lungs and airways, it is often responsible for bronchiolitis and lung disease or pneumonia in children less than one year old. In fact, the highest incidence of HRSV occurs in babies from two to eight months old.
It occurs more often between the months of October and March.
Human respiratory syncytial virus (HRSV) is also the most common cause of hospital admission in babies under one.
Bronchiolitis often begins with the same signs as catarrh. Infection can stay in the nose or extend to the ears and lower respiratory tracts.
Babies and small children affected by HRSV may show signs of:
Treatment for bronchiolitis due to HRSV basically consists of alleviating the symptoms. Antibiotics, which treat bacteria, are useless because, as we mentioned above, it is caused by a virus.
It is therefore advisable to:
Severe cases are treated in the hospital to give humidified oxygen and medication to help the child breathe more easily. In total, the condition usually lasts between one week and ten days, although a residual cough may persist for weeks. Bear in mind that the virus does not give the child immunity; they can become infected twice in the same season and reinfected in subsequent years.
Human respiratory syncytial virus (HRSV) is very contagious. It is spread if you come into direct contact with the nasal and throat secretions of someone who has the disease. This can happen when another child or adult coughs or sneezes nearby and the tiny droplets are inhaled by the baby. Also through hands or objects that have come into contact with infected people and then come into contact with the baby.
The virus can live for half an hour or more on your hands. It can also live for up to five hours on clothing, tissues, toys or furniture.
Infection can be prevented using several measures:
The prostate is a glandular organ present in men and is crossed by the urethra. It is involved in semen formation (80% of its content) and is therefore a sexual organ. When it grows, especially after the age of 50, it results in benign hyperplasia, but there are some symptoms, as the prostatic urethra consequently becomes narrower and thus obstructs the normal passage of urine.
The urethra is the urinary passage that goes from the bladder to the outside. In men, it has two branches; the prostatic urethra (passing through the prostate) and the spongy urethra, which crosses the entire penis to the outside.
When the prostate grows in size (benign prostatic hyperplasia or BPH), the diameter of the urethra decreases and symptoms occur. The obstruction of the urethra by the prostate is progressive and causes repercussions in the bladder, which requires more effort to drain the urine. It can also lead to urinary infections and the formation of lithiasis (stony concretions or calculi) from the salts contained in urine because it is not emptied easily and thus sedimentation of salts takes place.
If the obstruction is very large, the difficulty in removing the urine can cause the kidneys to be damaged because the bladder cannot be emptied properly.
More frequently urinating than normal, urinating at night, loss of force in urine stream, urinary urgency (the patient feels an intense urge to urinate) and also episodes in which urine escapes.
Men over the age of 50, with an increase in incidence as they get older.
Diagnosis is reached through clinical history, where the patient’s symptoms are ascertained, and a rectal touch, where the doctor accesses the prostate to assess the size and any abnormalities. An ultrasound will give information on the kidneys, the size of the prostate and the degree of drainage of the bladder.
A PSA test allows us to investigate suspected prostate cancer.
It is initially based on oral medications that relax the prostate muscles and facilitate the passage and normal evacuation of urine, or others that reduce its volume. In more advanced stages, drainage of the central part of the prostate should be done through a transurethral resection or laser enucleation.
Physical examination, ultrasound, PSA test. Urine flow test and assessment of post-void residual urine
Not applicable. Periodic checks for the onset of symptoms are the key to early diagnosis.
Chronic pelvic pain is defined as "chronic or persistent pain in the structures related to the pelvis in both men and women". It commonly impacts on cognitive, sexual and emotional behaviour. It often manifests as gynaecological, sexual, intestinal or pelvic floor dysfunction. A MULTIDISCIPLINARY approach must therefore be taken to treatment.
Chronic pelvic pain lasts for six months or more and affects the pelvic area, the abdominal wall of the bellybutton and below, the lumbosacral area of the back and/or buttocks and is of sufficient intensity to cause disability in the patient and/or require medical attention.
This has a clear effect on the quality of life of people suffering from the condition.
Its origin is unknown, but we do know that it is exploited by multiple biological/organic, psychological and environmental conditions, which interact in a non-linear way and predispose the patient to present with the condition. There is a clear trend for patients to attend multiple specialists, with requests for complementary testing, which can become iatrogenic, with the patient often feeling misunderstood and ill-treated by the healthcare system.
As it is more of a clinical condition rather than a diagnosis as such, the symptoms can vary a lot, but they always centre around persistent pain. It has a major impact on women of reproductive age and its impact on quality of life varies depending on the causes. It is worth remembering that it gravely impacts on patients’ sex lives and this can cause very significant psychological issues.
According to research, the prevalence of pelvic pain in epidemiology is vary variable. This almost certainly has to do with sociocultural aspects. According to the latest studies, it could be as much as 6.4-25.4% in women and lower in men, at around 2-17%. It is very likely that in the case of men there is an underestimation of this prevalence as there is less willingness to look at problems that also affect the sexual sphere.
Diagnosis is clinical. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are different scales to assess the severity of symptoms or associated comorbid disorders, and neuropsychological tests that evaluate cognitive difficulties in terms of attention and concentration. There are also some useful complementary tests to rule out organic causes and make a good diagnosis.
A multi-modal approach is required: psychoeducation, psychological treatment and pharmacological treatment. If the condition is also affecting the patient’s sexuality, we must consider tackling the issue with the patient’s partner as a priority. Several drugs have been shown to help control the symptoms. It very important for treatment to create a good doctor/patient relationship, avoiding unnecessary and iatrogenic complementary testing.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height. Neuroimaging. Scans.
Work with healthcare professionals from the different specialisms that treat chronic pelvic pain. Schedule regular appointments and manage requests for complementary tests and medical interventions to prevent iatrogenic illness. Do regular physical exercise, try to rest well at night, stay active and take part in employment and/or leisure activities, practise relaxation therapies such as mindfulness and avoid consuming toxic substances. Rehabilitation physiotherapy.
Psiquiatría: Dr. J A Navarro Sanchis
Cystic fibrosis is a genetic disorder that affects the lungs, the digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive enzymes. Bodily secretions that are usually fluid and not viscous become more viscous. Instead of acting as a lubricant, the viscous secretions form layers, especially in the lung and pancreas.
Patients with cystic fibrosis have a much higher level of salt in their sweat than normal.
The age at which symptoms appear varies, depending on the intensity of the disease in each person. Currently screening for cystic fibrosis is conducted in the first few days of a baby’s life, allowing a diagnosis to be made within a month of birth, much earlier than symptoms are likely to develop. Normally, symptoms appear within the first few months or years of life, although in some patients they may appear during adolescence or in adulthood. There has been an improvement in the quality of life of patients with cystic fibrosis compared to previous decades. Although cystic fibrosis requires daily treatment measures to control it, patients can still go to school and work.
The most common symptoms in small children are fatty deposits, delay in gaining weight, and repeated bronchitis and respiratory infections. Older children and adults may suffer from sinusitis, diabetes, pancreatitis or fertility problems.
It affects children and adults more or less severely depending on whether the illness has a mild or severe form of manifestation.
All new-borns are screened using a blood test to detect immunoreactive trypsinogen.
The sweat test (amount of salt in the sweat) is an important diagnostic test. It is done by stimulating the skin to increase sweat and measuring the amount of chloride secreted. In cystic fibrosis there is an increased amount of chloride and sodium.
Diagnosis is confirmed using genetic testing to look for mutations of the CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator). This gene is involved in the passage of salt through the membranes of the body.
It is very important that patients be attended in a specialised multidisciplinary Unit.
There is currently no definitive cure, although there is a lot of research in this field and in the future it is probable that we will be able to change the natural course of this illness with new drugs that come onto the market.
Treatment is aimed at maintaining lung function, avoiding respiratory infections and improving the absorption of foods and nutrition. Breathing exercises are essential. These breathing exercises maintain adequate ventilation of the lungs and in some cases are accompanied by inhalation of a solution of sodium chloride, other fluidifying substances or antibiotics.
The relevant preventive vaccinations should be administered (flu, pneumococcal, etc.). The Cystic Fibrosis Unit designs a treatment plan for each patient, which varies over time and according to the evolution of the condition.
From a digestive point of view, pancreatic function can be helped by taking pancreatic enzymes orally and promoting the absorption of foods.
In some cases, if the disease is very advanced, a lung transplant may be needed. Treatments are improving all the time and need to be administered less and less frequently.
Screening for immunoreactive trypsinogen in the blood, the sweat test, genetic analysis.
Complementary tests that may be useful include blood tests to look at vitamin levels, among other things, chest x-ray, chest CAT scan, functional respiratory tests (spirometry) and stool analysis.
Early detection is currently a reality and allows early treatment as symptoms develop.
A hiatal hernia is when the upper part of the stomach moves from the abdomen to the thorax above the diaphragm muscle.
This means that the acidic content of the stomach can easily go up into the oesophagus, leading to a chemical irritation known as oesophagitis.
This condition affects approximately 20% of the population, although knowing exactly how many people suffer from it is difficult because some of them do not present any symptoms at all. Those that experience symptoms usually suffer from acidity, abdominal discomfort, difficulty swallowing, bad breath or a dry cough.
We do not really know why hiatal hernias occur.
The diaphragm is the muscle that separates the thorax from the abdomen. The diaphragm's hiatus is one of the anatomic structures that help to keep the oesophagus (intrathoracic) and the stomach (intraabdominal) in position. If the stomach is displaced towards the thorax, its gastric content, which is very acidic, can easily go back up the oesophagus. The existence of a hiatal hernia is one of the causes of acid reflux, but not the only cause.
When suffering from a hiatal hernia, a patient may have acid reflux, with the consequence being a chemical irritation from the stomach acid on the lining of the oesophagus. This leads to a form of inflammation, known as oesophagitis, which is very painful.
Such pain is located close to the heart, which is why it needs to be distinguished from the pain caused by angina or pericarditis.
There may also be no symptoms of a hiatal hernia.
Hiatal hernias are very common and can affect 20% of the population at some point in their lives. It can also be an incidental x-ray finding in >40% of the asymptomatic population. Incidence increases with age and is most common in the over-50s.
Diagnosis of a hiatal hernia is based on demonstrating the abnormal position of the stomach and almost always the presence of acid reflux.
Oesophagogram:
The oesophagus and the stomach can be X-rayed, as can the swallowing process and reflux. A substance must be taken that shows up as opaque on X-ray images in order to be able to see the aforementioned structures.
Digestive endoscopy:
A flexible tube is inserted into the mouth, containing a camera for imaging the oesophagus and the stomach. This enables the position of the oesophagus and the stomach to be observed and the degree of inflammation detected.
Oesophageal manometry:
During this test, a probe is inserted through the nose that allows pressure changes in the oesophagus to be observed during swallowing and detects abnormalities in the way it is functioning.
24-hour pH (acid) monitoring
Acid monitoring with a probe that is inserted through the nose and assesses the amount of acid reflux from the stomach to the oesophagus over a 24-hour period.
Hiatal hernias are treated if there is severe acid reflux or excessive compression (strangulation) in the part of the stomach that is displaced.
Medical treatment of the hiatal hernia is done using hygienic-dietetic measures, such as lifting the head of the bed, not eating copious amounts of food, light dinners and medications that counteract or decrease stomach acidity.
If the patient does not respond to medical treatment, surgical correction of the hiatal hernia can be performed to reposition the stomach intraabdominally.
Surgery can be performed by laparoscopy.
Kidney disease encompasses a wide range of conditions that compromise the normal functioning of the kidneys. Their main purpose is to purify the blood of different composites, regulate their composition of mineral salts and acidity and contribute to the normal formation and maintenance of bones. They also support the creation of red blood cells and regulate arterial pressure. Kidney disease is characterised by a change in the functions described: higher levels of urea in the blood, excessive potassium or phosphorus, excessive blood acidity, bone pain and anaemia.
Kidney disease is measured by the stage of renal insufficiency, which increases from 1 to 5; the most advanced stage at which the kidneys have ceased to function. During stages 1 to 4 there are different medical treatments that can slow or compensate for renal insufficiency. At stage 5, patients have to undertake extrarenal purification techniques such as haemodialysis or peritoneal dialysis. In this case, the possibility of a kidney transplant will always be considered, which would allow a normal life free from dialysis but would require taking immunosuppressant medication to prevent rejection of the transplanted organ.
Renal insufficiency is usually detected with a simple blood test. Symptoms tend to be tiredness and generally feeling unwell caused by a build-up of urea, anaemia or both factors together. The patient may also have a headache if their arterial pressure is high.
All age groups. In childhood, there is often a genetic cause. In adults, it may be due to other illness such as diabetes, immune diseases or infectious diseases. It may also manifest due to the late appearance of genetic diseases in adults.
Renal insufficiency is diagnosed with a simple blood test. Establishing the cause of the renal insufficiency is more complicated. Often, a kidney biopsy and genetic testing will be needed.
Typical tests include blood tests, ultrasound, nuclear magnetic resonance imaging, kidney biopsy and genetic testing.
Initial treatment consists of substituting or compensating for the aforementioned alterations. During later stages, haemodialysis or peritoneal dialysis may be used, and in the case of terminal renal insufficiency, a kidney transplant may be carried out; from a deceased or a living donor.
Drinking a reasonable amount of water a day contributes to good kidney function.
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