We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
Patients are the centre and the core of our system. We are professionals committed to quality care and our organizational structure breaks down the traditional boundaries between departments and professional groups, with an exclusive model of knowledge areas.
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The commitment of Vall d'Hebron University Hospital to innovation allows us to be at the forefront of medicine, providing first class care adapted to the changing needs of each patient.
Hereditary spastic paraplegias (HSPs) are a group of rare, genetic neurological disorders characterised by progressive weakness and stiffness (spasticity) in the legs. This leads to increasing difficulty with walking over time. They are described as ‘hereditary’ because they are caused by alterations in genes that can be passed on within families. They are also known as familial spastic paraplegias or Strümpell-Lorrain syndrome.
HSPs are considered rare diseases, with symptoms that may begin from childhood to adulthood, depending on the genetic type. Neurologically, the primary problem is a progressive degeneration or dysfunction of the nerve pathways that run from the brain to the spinal cord, which are responsible for controlling limb movement and mainly affect the legs.
There are different forms of HSPs, sometimes classified as “pure” and “complex” types. In the pure forms, the symptoms are mainly limited to difficulty walking due to stiffness in the lower limbs. In the complex forms, in addition to paraparesis, other neurological symptoms or involvement of other organs may occur. To date, more than 80 genes have been identified in which mutations can cause HSPs. This explains the variability within HSPs, although each genetic type may present differently in each patient or family.
Although HSPs share the characteristic of leg spasticity with cerebral palsy, they are a distinct condition. In HSPs, there is no fixed brain injury present at birth, but rather a genetic alteration that causes a slow and progressive development of symptoms, which can sometimes be difficult to detect.
The main symptom of HSPs is progressive difficulty walking, caused by a combination of muscle weakness and spasticity in the legs. The most common signs and symptoms are:
HSPs can affect people of any age, although symptoms usually begin in childhood or adolescence. Both men and women can be affected by the condition.
Diagnosis involves several tests, which you can find here, and include:
At Vall d’Hebron University Hospital, patients benefit from the most advanced genetic sequencing techniques to achieve a precise molecular diagnosis quickly and efficiently. However, a proportion of patients still remain undiagnosed. That is why we are engaged in research to try to diagnose all cases and participate in international registries and projects aimed at improving the clinical assessment of patients.
You can view the HSP diagnosis infographic here.
Monitoring of the disease includes:
Currently, there is no cure, but multiple treatments are available to improve symptoms and quality of life:
The hospital offers cutting-edge surgical techniques and access to clinical trial units, enabling patients with HSPs to benefit from experimental therapies and innovative treatments.
HSPs can present at different stages of life and are chronic conditions that require long-term monitoring. At Vall d’Hebron Hospital, lifelong follow-up is ensured from the prenatal period through to adulthood. At the Paediatric Neurology and Neurology departments, we support patients through coordinated care with various units and departments across the Hospital. We also collaborate in research and ensure a smooth and effective transition through joint consultations and efficient communication. We also collaborate with patient associations to support research and raise public awareness about these conditions.
Discover more about the disease in this video:
Liver tumours in children and adolescents can be benign and malignant. They are considered rare tumours (for every million children, only one will suffer from a malignant liver tumour), which is why they should be treated in centres with great experience in hepatic surgery, and ideally with a liver transplant programme for children. Additionally, they must have the latest advances in interventional radiology.
There are several types of tumour, which dictates prognosis and treatment. Malignant tumours, hepatoblastoma and hepatocarcinoma are the most frequent, accounting for 2/3 of all liver tumours. Benign tumours include haemangiomas, hamartomas and focal hyperplasia. In the case of benign tumours, especially those of a vascular nature (haemangiomas), vascular and interventionist radiology plays a decisive role, being able to avoid unnecessary surgical procedures, improving the prognosis and avoiding liver transplants.
Surgical treatment is an essential part of the cure of most malignant cases, and liver transplants can be the only possibility for curing some patients. Interventional radiology techniques also play an important role. Vall d’Hebron Hospital has gained considerable experience in treating these tumours and is involved in the first global study to treat hepatic malignant tumours for children (PHITT), being one of the reference centres for this pathology in Spain within the European ERN networks.
Patients usually present with abdominal distension, a palpable abdominal mass, or both. Weight loss, non-focus fever and loss of appetite are also common. Sometimes they can also be discovered incidentally when performing an ultrasound for another reason. If there is any accompanying liver disease or the bile duct is compressed, a yellowish colouration of the skin and mucous membranes (jaundice) may appear. Some patients may present with abdominal pain.
It can affect children of any age, even newborns. Tumour types are different at the different stages of life (newborns, young children and adolescents). Haemangiomas (benign tumours) are more frequent in premature children. Some malignant tumours are associated with liver and metabolism diseases, as well as genetic and hereditary syndromes or with vascular anomalies.
The tumour is generally detected by the primary care paediatrician, who will refer the patient for evaluation. Diagnoses can sometimes be established in a prenatal ultrasound or shortly after birth. Lastly, it can be detected in routine clinical controls in children with illnesses related to the development of these tumours. When the patient presents a malignant tumour, it will be important to complete the study of possible syndromes and related diseases.
It depends on the type of tumour. In benign cases, it may consist of image controls, include pharmacological treatments or interventional radiology, and reserving surgery for very specific cases. In malignant tumours, surgery is essential for curing the patient and will be accompanied in general by chemotherapy treatment, which is administered before or after the intervention. In very advanced cases, liver transplants will be necessary.
Blood tests with tumour markers, an abdominal ultrasound and a magnetic resonance imaging scan are normally carried out. In order to plan surgery, it is usually necessary to carry out a CT scan. When there is a suspicion of malignancy, a chest CT will also be done and a small sample of tissue will be taken to know the exact tumour type.
Unfortunately, there are no preventive measures. Unlike liver tumours in adults, closely related to the consumption of alcohol and viral infections (hepatitis), in children they are generally isolated cases. Only a small percentage of cases appear in children with illnesses and syndromes that predispose to their appearance, such as bile ducts atresia or some metabolic diseases, in which it is essential to monitor them so that, if they appear, they can be detected early.
Radiodiagnosis (IDI), General Hospital
The computed tomography, also known as a "CT" or "CAT scan", is a test that gives morphological information on different types of tissues: bones, lungs, brain, liver, blood vessels and soft tissues etc.. This test lets us diagnose cardiovascular diseases, infections, musculoskeletal disorders, cancer and infections, as well as track progress and plan medical and surgical treatments, if necessary.
In order to do the test, the patient must lie down on the CT stretcher. The patient then moves through the interior of the device. Depending on the part of the body being examined, the patient may be aware of this movement or not.
While this radiological exploration is taking place, a contrast medium (iodine) is administered into a vein, though the patient will not even notice this as it is completely painless. You will be accompanied at all times by health professionals who will be on hand to help you and answer any questions you have.
Once the test has been completed, the radiologist, who is a specialist in CT scans and other radiological exams, will interpret the images and provide a report for the specialist who requested the test.
There is no risk involved, unless the patient is intolerant or especially sensitive to any of the components of the contrast substance.
However, there may be risks if the patient has some illnesses, but this will depend on each individual case. In addition, there are the risks for certain people, that are common to all radiological explorations with contrast:
Nuclear magnetic resonance is a test that allows us to take anatomical, functional images of the human body to diagnose and assess a person's state of health. There are several diseases that require such images, such as trauma, brain and bone marrow explorations and cancer, among others.
Using a powerful magnet and radio waves, the magnetic resonance device allows us to get detailed images of the internal structures of the human body.
To have the test done, patients lie down on a stretcher that is inserted into the magnetic resonance device. Usually it lasts between 20 and 40 minutes, during which a nurse or technical staff attend to the patient and indicate what position they need to lie in so that nothing interferes with the images. It is important that patients do not move during the test.
There are times when it is necessary to administer a contrast intravenously, so that some parts of the body can be seen better.
When the patient is a child or does not want to cooperate, professionals can assess whether sedation is necessary.
After finishing the test, the radiologist will interpret the images and draw up the report.
You will be unable to have the test done if you:
You should always notify staff treating you if:
Alzheimer’s disease (AD) is the most common neurodegenerative disease worldwide. First described in 1906, it was known for years as senile dementia, but today we know that most cases of senile dementia are AD. WHO data states that it affects over 50 million people worldwide and this is set to triple by 2050. It is the main cause of disability in the elderly and the second specific cause of death in Spain.
In certain areas of the brain of someone with Alzheimer’s, two proteins (amyloid-beta and tau) are progressively produced over several years, forming deposits that eventually damage and destroy the neurons, leading to the progressive loss of higher-level cognitive brain functions such as: memory, language (aphasia), the ability to perform learned motor functions (apraxia), and to recognise different sensory stimuli (agnosia), reasoning and judgement, and changes in mood, behaviour and personality. Although the etiology of the disease is unknown, we do know of many factors that contribute to its appearance.
AD manifests in various ways. The signs and symptoms are specific to each individual and the characteristics of how the dementia develops will be different for each person.
Most patients (85% of cases) present the typical form (amnestic or hippocampus), which starts with the symptom of episodic progressive memory loss in relation to recent events and difficult taking in new information, and thereby losing the ability to adapt to new situations. Discrete constructional apraxia. Loss of fluidity of speech with normal comprehension. Early and persistent depression, anxiety or apathy (most common), with a substantial decline in initiative, motivation and interest, and with indifference and passivity.
In the mid stages, the disease presents loss of remote memory. Temporal and spatial disorientation. Ideomotor and ideational apraxia occur as well as constructional apraxia. Speech continues to worsen and comprehension issues are added to the loss of fluidity and anomia. Visual and body image agnosia (somatagnosia) develops. The mid stages are when sleep and psychiatric disorders are most evident, including becoming agitated at night, being restless, delirium (being unable to distinguish what is reality: delusional jealousy, confusing TV programmes with real life) and hallucinations (false sensory perceptions: hearing voices, seeing insects).
In the late stages, patients present severe agnosia, a loss of bladder and bowel control, become mute or almost mute, and present motor function alternations such as overall stiffness and a stooped posture. Approximately 10% present epileptic seizures. All patients show obvious weight loss during this final stage.
In around 15% of patients with AD, memory may be relatively preserved until the late stages. These are atypical forms or variants (without memory loss in the early stages) which may present in three forms: with behavioural or personality changes, with visuospatial alterations, or with changes to language as the earliest and predominant symptom of the disease. As it progresses, the other symptoms described as the typical form of the disease also appears. These atypical forms of AD are more common in cases where the onset occurs at a younger age.
Daily activities (DA) are progressively affected: first there is a reduction in work and social activities (advanced daily activities); followed by changes to everyday activities (handling domestic objects, money, cooking, housework), and in the late stages, basic daily activities are affected (washing, dressing, eating, bladder and bowel control). In the final stage, patients enter a vegetative state and die as the result of an intercurrent illness: the time from diagnosis to death is usually around » 5-10 years.
The prevalence and incidence of the disease increases after 65 years of age. It therefore affects 5% of the population over 60, 20% of those over 80 and 30% of those over 90. In Spain there are 800,000 people with the condition. The real figure is undoubtedly much higher, however, as the first symptoms are sometimes difficult to distinguish from those that naturally appear with age. For this reason it is an underdiagnosed disease, with around 1 in 3 people with AD believed to be undiagnosed.
Fewer than 5% of cases of AD are hereditary. This is known as familial or inherited AD and occurs through autosomal dominant inheritance. The clinical picture includes an earlier onset of the condition (before 65 years old) and a faster evolution.
The remaining 95% (sporadic AD) present the combination of risk factors for the development of the disease together with genetic alterations, together making the patient susceptible to the disease.
Apart from genetic factors, other risk factors for developing the disease are: ageing; gender (from 65 it is more common in women); vascular risk factors such as high blood pressure, diabetes or obesity; lifestyle (smoking, alcohol, lack of physical activity, lack of intellectual activity, little social interaction); previous head injuries, and chronic sleep disorders. People with Down syndrome (trisomy 21) have an extra copy of the gene that encodes the amyloid precursor protein (APP) making them more susceptible to AD at a younger age. Chronic sleep problems increase the risk of AD. Interrupted sleep increases levels of the amyloid-beta and tau protein.
Due to the fact that pathological alterations (amyloid deposit following tau) begin in the brain 15-20 years before symptoms appear, there are currently considered to be 3 stages of the disease:
Although there is currently no cure for the disease, there are treatments that can delay or slow the progression of the disease for a time, improving quality of life for these people. Drug treatments are: cholinesterase inhibitors (rivastigmine donepezil, galantamine) that act to facilitate cholinergic neurotransmission and are licensed for the symptomatic treatment of light or moderate AD, and memantine, a non-competitive glutamatergic NMDA receptor antagonist, which decreases levels of glutamate (an excitotoxin that destroys neurons when released chronically and in excess) and is licensed for the mid and late stages of the disease.
In addition to these treatments, proper management of lifestyle factors is very important, such as: correcting any hearing loss, reducing smoking and drinking, proper management of blood pressure and diabetes, a balanced diet, avoiding obesity, doing regular physical activity, preserving and encouraging social contact. Together with the above, cognitive stimulation is useful during a large part of the progression of the disease.
There are currently 400 studies assessing the efficacy and safety of different treatments in patients with AD.
Known preventions strategies work on the risk factors for the disease: healthy habits, controlling vascular risks (high blood pressure, diabetes, etc.), a higher level of education, changes to lifestyle (essentially increasing physical activity) giving up toxic habits (smoking and drinking). All of the above can reduce cases of AD by 35-40%, or at least delay its onset.
Education and mental activity stimulate the connections in the brain and increase the cerebral reserve capacity, so it is very important to remain mentally active.
The Dementia Unit in the Neurology department is in charge of diagnosing and looking after patients with Alzheimer’s. The unit includes neurologists with expertise in diagnosing and managing the different pathologies that can occur with dementia (changes to cognitive and behavioural functions that result in changes to daily life) as the main manifestation. Neuropsychologists, nurses and social services and healthcare staff also play a very important role in the Unit.
Other units and departments involved in the diagnosis and monitoring of these patients are: Primary Care, Nuclear Medicine, Neuroradiology, Psychiatry, Pathological Anatomy, Genetics.
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 concept of resistant osteoarticular infections encompasses all procedures on patients with infections that have not responded to previous medical and surgical treatment. These procedures may be changing prostheses or treatment for chronic osteomyelitis or septic pseudoarthrosis among others. The Musculoskeletal System Septic Pathology Unit also treats many of these patients from the start due to the complexity of their condition.
The different types of resistant osteoarticular infections treated in the unit are:
Osteomyelitis/osteitis of haematogenous origin and which are resistant to medical and surgical treatment:
Chronic osteomyelitis or septic pseudoarthrosis derived from trauma or surgical interventions. Those resulting from open fractures, typically in the tibia, are often accompanied by loss of bone or the cutaneous covering. Exact incidence rates are not known, but the more exposed the bone has been, the higher the chances of chronic infection.
Periprosthetic infections. This type of infection occurs in 1-3% of primary arthroplasty procedures. In some cases, the only obvious symptom may be pain. The presence of a fistula or the isolation of a pathogen microorganism in different samples is used to confirm diagnosis. The most common treatment is to change the prosthesis in two separate procedures.
Severe treatment-resistant diseases of the soft tissue (necrotizing fasciitis, gangrene). These are extremely unusual lesions and when do they appear they are often fatal. Excessive localized pain may be the only initial symptom, making it very difficult to diagnose at this stage. When diagnosed, aggressive treatment with antibiotics and surgical debridement can have an impact on survival and the need for amputation.
Patient-related factors (control of additional diseases or disorders) are very important in the prevention of osteoarticular infection, as are those related to surgery (antibiotic prophylaxis), the presence of implants, and tissue condition (bone and cutaneous covering) amongst others.
This type of infection requires a multidisciplinary team as treatment is very complex.
Pulmonary atresia with ventricular septal defect is a rare heart condition characterised by a lack of connection between the right ventricle and the pulmonary arteries.
This is a rare congenital heart defect characterised by no connection between the right ventricle and the pulmonary arteries. It is an extreme type of Tetralogy of Fallot in which blood enters the lungs to be oxygenated by bypassing the heart.
Blood can reach the lungs via the pulmonary arteries themselves, which are not connected to the heart, or via the collateral arteries, which originate from the thoracic aorta and directly supply the lung. There are significant anatomical differences between vessels which must be studied in each individual child.
This condition is very heterogeneous, which creates the variability seen in the pulmonary arteries. Two groups can be distinguished:
The prognosis of this disease depends on the growth of the pulmonary arteries to be able to surgically repair the condition.
It is a rare congenital heart condition which makes up 1-2% of all congenital heart defects.
In most cases, diagnosis is via foetal echocardiogram. This ultrasound will show the lack of connection between the heart and the pulmonary arteries, as well as the presence of VSD. Through this test the size and position of the pulmonary arteries can also be measured.
When a child is born, it has a certain quantity of oxygen, known as “saturation”, in its blood which is around 80-90% of the normal level, although this is enough for the child to develop normally.
The department is made up of professionals from the Catalan Health Institute (ICS) and the Institute for Diagnostic Imaging (IDI). We use the most advanced techniques and help generalise their application to improve patient care and the quality of diagnostic and therapeutic examinations.
The Radiodiagnosis Department offers a wide range of examinations. Requests are analysed to establish their suitability, and a standard individualised study protocol for each clinical situation is assigned. Protocols are revised and updated regularly to ensure the quality and relevance of the studies. The department is organised into sections, following an “Organ and System” structure, which means we are properly integrated into the rest of the hospital, ensuring a high degree of specialisation in each area:
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