mucopolysaccharidosis

August 12, 2017 17:51 | Genetic Diseases

Mucopolysaccharidosis the nature of emerging bone changes relate to a disease in which bones are affected epiphysis.It is from this circumstance associated difficulties in their recognition, since they have a great similarity with other epiphyseal dysplasia.In some cases, when the conditions in the hospital are missing opportunities to better survey of persons with existing disorders of the musculoskeletal system, it is possible misdiagnosis.This leads to incorrect treatment of orthopedic and medical-genetic counseling on further procreation.All mucopolysaccharidoses divided into two groups, depending on the person appearing manifestations of this pathology: Hurler and Morquio-like-like.

all possible manifestations in Mucopolysaccharidosis Hurler-like group are of the same type and differ mostly only on the severity of symptoms.In the case of such a disease babies are born completely normal, but over time gradually begin to appear and grow progressively different bone deformation.These children often

suffer from respiratory diseases, they have a chronic rhinitis, it is possible to note the appearance of noisy breathing.Later, it is becoming more pronounced lag in the growth of children from their peers.They have a short neck, shoulder blades are located higher than that of healthy children.Gradually appear and constantly progressing coarse facial features (Hurler-like face), joint contracture.Primarily affects the upper extremities: fingers bend brush, brush are broad, strong, they lack the possibility of extension.Under the influence of contractures in the joints of the lower limbs in children there is a change of gait: they walk on bent legs, often to "tiptoe".Such changes of the musculoskeletal system are combined with a variety of extraskeletal changes.

X-ray examination revealed the most characteristic of the disease of the pelvis changes, hips and wrists.The pelvis is compressed from the sides, head of the small size of hips, flattened, thin neck of the femur.In the study of bones brush reveal delay the appearance of the nuclei of ossification of carpal bones, metacarpal bones are short and wide, wide phalanges, hypoplastic nail phalanx.

There are several options for mucopolysaccharidosis in Hurler-like group.

most difficult runs Mucopolysaccharidosis type 1H. first manifestations of the disease appear in the first months of life and progress rapidly.There has been a sharp decline in mental development.By 2-3 years of developing a typical picture of the disease.But we must remember that the manifestations of mucopolysaccharidosis type 1 H in the first year of life is very similar to the symptoms of congenital hypothyroidism.In the case of hypothyroidism, the child is also noted mental retardation.Characterized as the appearance of such children: puffy face, protruding tongue often has a large size, the skin is dry, the child is overweight, moving very little, there are frequent constipation.Early detection of hypothyroidism need to start early treatment of him, since children who start to receive treatment within the first six months of life can develop completely normal, which is not the case of a late start of treatment.

Another type of mucopolysaccharidosis Hurler-like Group on picture bone changes similar to the type of 1H.The difference is that suffering is always only boys, most of them have blond hair and dark bushy eyebrows.For this type of mucopolysaccharidosis characterized by the disappearance of coordination to 2-6 years.The child often begins with the fall when walking.Children's behavior becomes uneven and in some cases even aggressive.They do not eat solid food.Between the blades in some children can see the appearance of nodular skin lesions.Facial features change is not as sharply as in the above-described form of mucopolysaccharidosis.

When Mucopolysaccharidosis type IS, which also applies to this group of MPS, the first symptoms appear late, usually at 3-6 years of age, and grow very slowly.A complete picture of the disease is detected at the time of maturity of the child.In adolescence, often seen from an ophthalmologist revealed corneal clouding her eyes.Increased liver and spleen is rare.For this type of mucopolysaccharidosis typical is the defeat of the aortic valve, which manifests characteristic symptoms of this disease.The mental development of children is not so much reduced, and sometimes does not suffer at all.The defeat of the bones and joints in the disease severity is the lightest of all Mucopolysaccharidosis Hurler-like type.

next mucopolysaccharidosis type of Hurler-group of this type is mucopolysaccharidosis type VI - Lamy syndrome Maroto-.The first signs of this syndrome occur after 2 years of age and 7-9 years are very characteristic.Such children reach growth of no more than 145-155 cm. They also coarse facial features, but not as much as the mucopolysaccharide type VI, joint contractures are expressed, the children like "constrained" when making any movement.A characteristic feature of this type of mucopolysaccharidosis is that, despite the pronounced all major manifestations of the mental development of children will never suffer.The last two considered mucopolysaccharidosis type accompanied by all the characteristic changes of the skeleton as indicated above.

Manifestations Morquio-like Mucopolysaccharidosis differs sharply from Hurler-like group.Persons with the disease of the musculoskeletal system are dwarfs, have specific features and short body.The first signs of the disease appear after 2 years of age and grow rapidly.The head is quite large, coarse facial features: wide-set eyes, bridge of the nose saddle shape, the lower part of the face appears.The neck is short, chest keeled forms, many children have curvature of the spine.The blades are located unusually high, deformed bones of the forearm, soft brush.Wrist, knee and ankle joints are increased in size.This is especially true because of the low weight of children in connection with a reduced appetite.Lower limbs twisted, flattened foot.Children quickly get tired, walk rapidly deteriorating, and many drop out due to bone marrow due to its compression of.When X-ray reveals hypoplasia or absence II odontoid cervical vertebra, as well as signs of instability in the joint of the first cervical vertebra from the skull.There is a universal platispondiliya.Characterized as changes in the pelvic bone.Femoral neck valgus, their heads flattened sharply, as if divided into several fragments.Changes in the hands similar to those in the Hurler-like Mucopolysaccharidosis group.

In this disease, in addition to the skeletal system suffers from connective tissue, which is the basis of various internal organs and systems.Often children do not hear in connection with the development of their early hearing loss.In addition, there is a tendency to frequent colds.Quite often in children with MPS occur umbilical and (or) inguinal hernia.Intelligence in most cases remains normal.Some of the sick children identify changes in the cardiovascular system, liver increase, at least - the spleen.Particularly pronounced changes in the eye: corneal lesion, often detectable during the inspection ophthalmologist using a slit lamp.

One of the most informative methods for diagnosis of mucopolysaccharidosis is the study of the structure of the connective tissue cells.The most accessible material for this study is the skin.