Mucopolysaccharidosis

Mucopolysaccharidosis is a group of hereditary connective tissue diseases that occur with the defeat of the nervous system, eyes, internal organs and the musculoskeletal system, resulting from the accumulation of acid glycosaminoglycans, i.e. mucopolysaccharides. Disorders in the exchange lead to different symptom complexes, which have a number of common clinical manifestations.

Clinical picture. A disproportionately small increase is detected, the delay of which begins at the end of the first year of life. Draw attention to rough features: an overhanging forehead, a large tongue, hypertelorism, deformation of the ears and teeth. The thorax is deformed, the kyphosis of the thoracic and lumbar spine is expressed. Characteristic restriction of joint mobility, hepatosplenomegaly, umbilical and inguinal hernia. X-ray reveals early ossification of the occipital parietal suture, "fish vertebrae". Formation of the nuclei of ossification is not disrupted. In the neurological status diffuse muscular hypotension, general motor retardation are noted. Decreased intelligence and hearing loss of varying degrees are characteristic of various types of mucopolysaccharidosis. In terms of the severity of bone changes and mental disorders, as well as the rapidity of progression of metabolic disorders, there are seven main types of mucopolysaccharidosis.

I type - the Hurler syndrome. The inheritance is autosomal recessive. The disease is rapidly progressing. In the urine of patients, an increased amount of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) is determined.

II type - Gunther's syndrome. Hearing loss, retinitis pigmentosa are characteristic. The flow is slow. Inheritance is recessive, linked to the sex. In urine, chondroitin sulfate B and heparitin sulfate are also detected, but in smaller amounts.

III type - the Sanfilippo syndrome. Severe dementia. The inheritance is autosomal recessive. There is a lot of heparitin sulfate in the urine.

IV type - Morkio syndrome.

V type - the syndrome of Scheye.

VI type - Maroto-Lamy syndrome.

Type VII is due to a deficiency of p-glucuronidase.

Diagnosis. It is based on clinical, genealogical and biochemical research data.

Forecast. In connection with a steady progression, the forecast is most serious in the Hurler syndrome, since the death occurs before reaching the age of 10-15 years from the attachment of respiratory diseases and cardiovascular insufficiency.

Treatment. Assign hormonal drugs: ACTH to suppress the synthesis of mucopolysaccharides, thyroidin, prednisolone. Use large doses of vitamin A, cardiac drugs; Attempts are made to treat with cytostatic agents.