What is tuberous sclerosis: symptoms, diagnosis and treatment

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What is tuberous sclerosis: symptoms, diagnosis and treatment

Tuberous sclerosis is a rare (1 in 30,000 people) genetic disorder that causes tumors to form in organs throughout the body. Most often, internal organs (kidneys, heart, lungs) are affected, but at the initial stage the disease can manifest itself externally: multiple neoplasms appear on the skin of the face.

For the first time, ” tubers ” (from lat. tuber – growth) – neoplasms in the brain – are described by the neurologist Bourneville , therefore, in some sources, this disease can be found under his name.

The treatment and prognosis of tuberous sclerosis is not an easy task: it requires a number of competent specialists and a lot of examinations. In this case, the prognosis will depend on the health of the patient as a whole, how quickly he was given the correct diagnosis and how soon treatment began. At best, TS patients can live quite a long life.

tuberous sclerosis

Causes of tuberous sclerosis

Bourneville disease is genetic in nature and is caused by mutations in the TSC1 and TSC2 genes, and therefore patients experience uncontrolled growth of tumor tissues.

There are 2 types of tuberous sclerosis, depending on the location:

Mutation of the gene 34 locus of the ninth chromosome. In this case, there is a violation of the coding of hematin – an anti- oncogene that provides prevention of tumor cell transformation;

A mutation in the 13th section of the sixteenth chromosome leads to malfunctions of tuberin , a protein that blocks uncontrolled cell growth.

Expert opinion

Tuberous sclerosis is a very rare genetic disease characterized by the development of benign tumors in various organs. TS is diagnosed during puberty. The approximate frequency is 1 in 6000. If one of the parents has such a disease, then the chance that it will be found in a child is 50%. At the same time, there are statistics showing that 2/3 of cases are new mutations.

The clinical manifestations of the disease are very diverse and depend on the location of the tumors. CNS lesions block the flow of nerve impulses, lead to a delay in cognitive development, provoke convulsions, spasms. Tuberomas can grow and block the flow of cerebrospinal fluid, causing unilateral hydrocephalus. Angiolipomas (tumors of the kidneys) and polycystic kidney disease provoke the development of arterial hypertension. Skin lesions are very common.

For diagnosis, large and small signs are used. To make a diagnosis of tuberous sclerosis, two large signs or one large sign in combination with two (or more) small ones are enough. Be sure to need blood and urine tests, ultrasound of the kidneys, ECG, EEG, CT, MRI, genetic studies.

Forms of the disease

TS has two main forms:

Family – found in families where there was a sick relative. A child whose parent has TS has a 50% chance of getting the disease.

Sporadic – not hereditary, occurs spontaneously.

Symptoms of tuberous sclerosis

Bourneville ‘s disease has a rather variable clinical picture, but in general, all signs of the course of the disease can be divided into primary and secondary.

Primary signs:

angiofibromas (neoplasms with a fibrous and vascular type of tissue) of the face or fibrous plaques (dense rounded white formations) on the forehead;

neoplasms near the nails;

violation of skin pigmentation: the appearance of three or more hypopigmented spots;

severe dryness of the skin, the so-called shagreen skin;

multiple neoplasms on the retina ( hemarthomas );

tubers on the brain at the border of white and gray matter;

tumor of the central nervous system;

giant cell astrocytoma;

rhabdomyoma (node) of the heart;

cystic destruction of lung tissue;

multiple neoplasms on the kidneys.

Secondary signs:

numerous depressions in the enamel of the teeth;

polyps in the intestine;

destruction of bone tissue (bone cysts);

fibromas of the oral cavity;

benign tumors (hamartomas) of internal organs;

change in the color of the retina;

violation of pigmentation of the skin;

kidney cysts.

For an accurate diagnosis of tuberous sclerosis, a specialist needs confirmation of at least two primary signs or one primary sign and two secondary signs.

In children, the symptoms are as follows:

dizziness and slow speech;

temporary blurred vision, eye pain;

decrease in muscle tone;

trembling of the extremities (with damage to the cerebellum);

urinary incontinence (with a complex course of the disease);

nausea and vomiting.

CNS lesion

Damage to the central nervous system can manifest itself in different ways. The patient may experience:

seizures (occur already in the first year of life of a child with tuberous sclerosis);

changes in behavioral reactions (autism, hypermobility and attention deficit syndrome, aggression and auto-aggression);

intellectual impairment (mental retardation) – observed in 50% of cases (ranges from moderate to deep);

sleep disturbance (insomnia, sleepwalking, early awakening, etc.).

With damage to the central nervous system, the brain appears:

Cortical tubers (single and multiple) – protrusions above the furrows of the brain. Observed in patients in 50% of cases;

Subependymal nodes are localized in the ventricles of the brain. In 10-15% of cases, they can develop into giant cell astrocytomas. In this case, patients experience severe headache, nausea and vomiting.

Dermatological symptoms

This disease is quite active externally. So, the patient may have the following symptoms:

hypopigmented spots – white spots on the body and buttocks. Often found at birth, their number increases with age;

angiofibroma of the face – pinkish nodes on the cheeks, nose and chin;

“shagreen skin” – yellowish skin with a characteristic surface (similar to orange peel), usually localized in the lumbosacral region;

periungual fibromas are reddish nodules around the nail, usually on the legs.

fibrous plaques – neoplasms of skin color, slightly rough to the touch; are usually localized on the forehead;

white strands of hair, eyelashes and eyebrows (often this symptom is attributed by parents to childhood, and it is not given much importance. But if white hair is combined with other symptoms of TS, it is worth visiting a doctor).

Ophthalmic symptoms

In 50% of patients, ophthalmic symptoms are observed, the difficulty lies only in the fact that they are difficult to detect in the early stages. The disease manifests itself at this level in the appearance of a benign tumor (hamartoma, often multiple) of the retina and optic nerve. Usually the tumor is localized near the optical disc.

The hamartoma manifests itself as a drop in vision, depigmentation of the iris, swelling of the optic disc, strabismus, cataracts, etc.

Damage to internal organs

Neoplasms of internal organs in TS are often multiple and affect paired organs. For some time, the course of the disease may be asymptomatic. The following organs are most often affected in TS:

heart ( rhabdomyoma ) – with intrauterine development of rhabdomyoma – fetal death is likely. In young children , tachycardia, arrhythmia, and ventricular fibrillation may indicate the presence of rhabdomyoma . Older children may not have symptoms at all, and by the age of 5-6 years, rhabdomyoma may disappear altogether);

lungs (cysts) are affected already at a conscious age, usually adolescence, leading to respiratory failure;

kidneys (polycystic) – a symptom characteristic of half of the patients and acts as the second leading to death (after CNS damage). This problem is usually found in patients after 30 years;

liver (hamartoma – a benign tumor, which is accompanied by shortness of breath, vomiting, respiratory dysfunction);

intestines (polyps – benign neoplasms on the leg, hanging from the walls of the organ. Attacks of cramping pains and bleeding are possible).

The last two violations also lead to the formation of defects in the teeth (cavities in the enamel).

Diagnosis of tuberous sclerosis

TS is quite difficult to diagnose. As mentioned above, sometimes the disease can be asymptomatic. Since the disease manifests itself in different organs (from the eyes to the intestines), the joint efforts of several specialists and an extensive examination will be necessary. To begin with, specialists conduct a patient survey, which usually contains the following questions:

What are the symptoms?

How long ago did they appear?

How often are they repeated?

Were there any cases of this disease in the family?

The neurologist examines the patient in order to find any neurological pathologies (epilepsy attacks, intellectual disorders, etc.).

A dermatological examination is aimed at finding bumps on the skin or signs of skin discoloration.

The ophthalmologist examines the fundus, retina, optic nerve.

The following examinations are also carried out:

Blood test for the presence of elevated levels of creatine, urea (observed with kidney damage);

Urinalysis for the presence of blood in it (also a symptom of impaired kidney function);

Echocardiography is designed to show tubercles on the heart;

EEG with samples will help to register cerebral epileptic activity.

To assess the strength of the CNS lesion, it is necessary to conduct CT and MRI of the brain. In the case of tuberous sclerosis, tubercles on the surface of the brain will be visible here, as well as an increase in the amount of cerebrospinal fluid.

If localization of the TS in a particular organ is suspected, ultrasound, CT and MRI of this organ or aggregate (for example, ultrasound of the abdominal cavity) is performed, if intestinal damage is suspected, sigmoidoscopy and colonoscopy are performed. Ophthalmic lesions are diagnosed by ophthalmoscopy (examination of the fundus to assess the condition of the retina).

Genetic testing for changes in the TSC1 and TSC2 genes.

Treatment of tuberous sclerosis

It is currently impossible to completely recover from TS, since the disease is genetic. The course of therapy is designed to interrupt the signs of the disease and improve the general condition of the patient.

Anticonvulsant therapy is the main one in the treatment of TS, since this disease is accompanied by frequent seizures of epilepsy, and the degree of oligophrenia is directly related to the frequency of epileptic seizures .

Doctors usually prescribe drugs of the following kind:

Hypotensive – designed to lower blood pressure;

Cardiovascular – in case of violation of the heart;

Corticosteroids, anticonvulsants and antidepressants – to eliminate epileptic seizures, etc.

It is also important for patients with TS to eat properly: it is necessary to increase the intake of fats and reduce the consumption of proteins and carbohydrates.

In case of a severe course of the disease, patients are prescribed an operation (depending on the location of the tumor): tumors are removed in the brain, kidneys, organs of the gastrointestinal tract, etc. If the tumors are multiple, the entire organ is often removed. The tubercles on the skin are removed by laser or cryodestruction .

For children, it is also necessary to consult a psychotherapist to prevent oligophrenia. Treatment in childhood is designed to eliminate nervous convulsions. With the localization of tumors in the heart or kidneys, heart and kidney failure is treated. Intracranial tumors must be removed, as they provoke an increase in intracranial pressure. Timely diagnosis and competent treatment gives the child a chance to live a fairly long life.


TS is a rather dangerous disease: it is difficult to diagnose it, it is almost impossible to cure it, and there are also a number of complications, namely:

Hemianopsia is damage to the visual system. A person with such a diagnosis sees the world as if in half;

Dropsy of the brain (hydrocephalus) is dangerous with severe headaches, decreased hearing and vision;

Kidney failure leads to the retention of toxins in the body, acid-base imbalance, and heart failure;

Persistent epilepsy is the inability for the patient to regain consciousness even for a time between attacks. Status epilepticus (prolonged seizure) can be fatal.

TS is dangerous for a number of complications, each of which, in turn, requires separate treatment, which is why it is so important to make a correct diagnosis in time and start treating TS.

Disease prognosis

It is impossible to eliminate this disease completely, but it is quite possible to alleviate the symptoms. Therefore, it is so important to diagnose TS at an early stage: it is possible that traditional therapy without surgical intervention will still be enough to combat the symptoms.

Therefore, if a number of the symptoms described above are found (especially in children), it is immediately necessary to consult a doctor, pass the necessary tests and undergo an examination. Since TS is a genetic disorder, people in whose families it occurs are advised to consult a medical geneticist at the stage of pregnancy planning.

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