Hurler's Syndrome: causes, treatment and photos

Mucopolysaccharidosis is a common name for a number of rare diseases that are of a genetic nature. Pathology develops due to a shortage in the body of certain enzymes that help break down fats and carbohydrates into simple molecules. This article examined mucopolysaccharidosis type 1 - the syndrome of Hurler.

Causes of

The disease is hereditary in an autosomal recessive manner. It develops because of anomalies in the exchange of mucopolysaccharides.

Pathogenesis of

Mucopolysaccharidosis refers to the so-called lysosomal accumulation diseases. As a result of deficiency of lysosomal enzymes, catabolism of glycosaminoglycans is hampered. They accumulate in tissues and organs, disrupting the functioning of the body and its systems. First of all, the skeleton is affected and the physical development is delayed.

External signs and symptoms of the disease

Symptoms of the disease are manifested in the form of defects in the bone, connective, cartilaginous tissues. The main symptom is growth retardation. This symptom can be found earlier than the others, usually by the end of the first year of life it becomes clear that the child lags behind in growth.

Also mucopolysaccharidosis can be assumed by seeing gross facial features. In patients, a large tongue, hypertelosyrme( too large a distance between the pair organs, in this case between the eyes), deformed ears, the forehead hangs, the teeth are twisted.

Symptoms of mucopolysaccharidosis include deformities of the chest, pronounced kyphosis of the thoracolumbar spine. When carrying out an X-ray, it is possible to detect premature ossification of the occipital parietal suture without breaking the ossification nuclei.

In most cases, the disease accompanies the limitation of joint mobility, abdominal hernia, hepatosplenomegaly( enlargement of the liver and spleen due to pathological processes occurring as a result of the disease).

From the side of neurology, motor impairment and muscular hypotension are noted. Also, with mucopolysaccharidosis, there is a decrease in hearing and a decrease in intelligence, down to severe dementia. As a result of progressive systemic lesions of the skeleton, internal organs are also subject to disturbances in varying degrees.

Types of mucopolysaccharidosis

There are several types of diseases that differ in the severity of bone changes and mental disorders:

• I - the syndrome of Hurler.
• II - Hunter syndrome( Hunter).
• III - the Sanfilippo syndrome.
• IV - Morkio syndrome.
• VI - Maroto-Lamy syndrome.
• VII - Sloic syndrome.

The division in medical practices of different countries may differ. In type V, Scheye syndrome is usually isolated. In the American community, patients with mucopolysaridosis are divided by the severity of symptoms of the first type and distinguish three phenotypes: the Hurler syndrome, the Scheye syndrome and the intermediate between them the Hurler-Scheye syndrome( of which the hurler is the heaviest, the Scheye is the lightest).

Hurler's syndrome

This form is more common than others and has been described earlier than other syndromes. In addition, the clinical picture is the most vivid and typical of all kinds of mucopolysaccharidosis.

Hurler's syndrome develops as a result of autosomal recessive inheritance. This type of disease is characterized by very rapid progress. Despite the fact that mucopolysaccharidosis of the first type is similar to the second( Gunther, or Hunter), this is a more complicated disease. For the first time this form was described in 1919 by Gertrude Hurler( therefore the correct name is the Hurler syndrome, not Hurler).Frequency of occurrence is one case for 20-25 thousand people, and in most cases the parents of the ill child are in blood relationship. Therefore, if a diagnosis is made of "Hurler's syndrome", the reasons must be sought at the genetic level. Symptoms appear almost immediately after birth, and by the year or two the clinical picture has already been expressed completely.

Gurler's syndrome is a classic manifestation of the disease. As the disease develops, growth slows down, there is a visible opacity of the cornea, the vessels of the nose are overwhelmed with blood. With this form of the disease, an extension of the Turkish saddle, shortening and widening of long bones, hypoplasia and acuity of the vertebrae of the lumbar region( the so-called fish vertebrae), deformities of the spinal column can be observed in this form of the disease( patients suffer from kyphosis and lordosis of the thoracolumbar region of the spine).The pathologies of the cardiovascular system begin - coronary arteries are clogged, valves, myocardium, endocardium change, the heart increases in size.

Hydrocephalus is noted, due to the deposition of mucopolysaccharides in the meninges. Foci of demyelination are determined. Mucopolysaccharides are also deposited in the liver, spleen, epithelium of the renal tubules;retina, sclera, cornea of ​​the eye;nerve cells, cartilage.

Children are born already with a characteristic appearance - they have very peculiar, rough features, because of which the other name mukopolisaharoidozov - gargoilizm( from the word "gargoyle" - a fantastic figure with unusual features), including the so-called and Hurler's syndrome. Photos depicting patients illustrate the bizarre distortion of the child's features. In such children, the skull is changed - it takes the shape of the keel of the boat, so-called scaphocephaly, sunken nose, thick lips, large tongue, steep forehead, short neck and characteristic facial expression. Outwardly, this really reminds you of the depiction of mythological gargoyles.

They also have a shortened rib cage, lower ribs protrude, there are signs of kyphosis, joints( especially fingers and elbows) are inactive, there may be inguinal and umbilical hernias. Nails can take the form of watch glasses, hair becomes stiff and dry, voice - low and hoarse. Probability of deafness or even deafness. Patients often suffer from caries, which provokes the syndrome of Hurler.

Symptoms include pathology of the respiratory system, because of this, the child breathes his mouth, he has adenoids, he is prone to viral infections. Over time, he develops characteristic of mucopolysaccharidosis problems with the liver and spleen( as a result, the stomach is enlarged), dementia.

Growth remains dwarfish. Due to an incorrect physique and deformity of the spine, patients walk on their half-bent legs, on tiptoes.

The Gurler syndrome has a malignant progressive character, so the disability of patients is extremely rapid. Many do not live up to 10 years.

Diagnostics of

The patient needs to carry out clinical, radiologic, biochemical, genealogical, and molecular-genetic studies. Diagnosis is carried out according to the clinical manifestations of the disease, based on X-ray and urinalysis, which determines the activity of the enzymes and the excretion of glycosaminoglycans.

Treatment of mucopolysaccharidosis

If a patient is diagnosed with "Hurler's syndrome", the treatment is supposed to be more symptomatic. The patient is observed comprehensively in the orthopedist, surgeon, pediatrician, otolaryngologist, neurosurgeon, ophthalmologist and neurologist. The patient undergoes orthopedic correction of locomotor system disorders, removes hernia, treats frequent virus diseases in such patients, hearing disorders, otitis, sinusitis. Also under observation is the cardiovascular system.

Used hormonal drugs that temporarily improve the patient's condition:

• glucocorticoids,
• corticotropin,
• thyroidin.

In addition, the patient is shown vitamin A, dextran 70, which also temporarily improve the patient's condition. A short-term improvement results in transfusion of blood plasma preparations.

In case of Gurler's syndrome, a physiotherapeutic treatment can be prescribed to the patient: lidase electrophoresis on the area of ​​affected joints, laser puncture, magnetotherapy, paraffin applications. Also, patients are recommended to engage in exercise therapy, whose exercises affect the joints and spine. Good results often give a massage.

Since patients with Gurler's syndrome are susceptible to respiratory diseases, it is necessary to timely sanitize foci of infections in the mouth and nasopharynx.

For the treatment of mucopolysaccharidosis type 1, surgical procedures are often performed - corneal transplantation and correction of valvular heart defects and nerve impairments. In international practice, in addition to symptomatic treatment with medications, physiotherapy or surgical interventions, substitution enzyme therapy and stem cell transplantation are used.

If necessary, the patient undergoes hernial dissection, removal of adenoids, antiglaukomatous operations, tracheostomy, hip joint prosthetics, hydrocephalus shunting, etc.

Forecast

The prognosis is unfavorable for both the Hurler syndrome and other forms that have mucopolysaccharidosis. The syndrome of Hurler is the most hopeless. Changes in the skeleton are increasing every year, as a result of which organs and systems are subjected to more significant violations. If the child does not die of pneumonia at an early age, by 7-12 years old it is already physically and mentally disabled. Until the youthful age, few live.

Prevention

This disease can not be prevented. But you can find it at the earliest stage - with prenatal diagnosis. To do this, the amniotic cells are analyzed for enzyme deficiency( in the case of a positive pregnancy, abortion is recommended).

Due to early diagnosis and timely treatment of the developed compression of the spinal cord, irreversible nerve damage can be avoided. For prophylaxis, a medical genetic consultation is mandatory.

Forecasts for treatment of

Despite the difficulties in treating the Gurler syndrome, bone marrow transplantation has been used in many developed countries over the past 20 years, which significantly improves the quality of life of patients. For more than 10 years, substitution therapy has been used to treat all manifestations of non-neurological mucopolysaccharidosis.