Morquio syndrome

The Morquio syndrome it is a rare genetic immune deficiency of character that is part of the group of eight clinical forms of mucopolysaccharidosis.

It was first described by Dr. Morquio Uruguayan pediatrician and a radiologist Englishman named Ulfrich, in 1929, four children from the same family.

This hereditary disease characterized by a disorder of connective tissue, resulting in an inborn error of metabolism of polysaccharides, especially queratossulfatos, also called mucopolysaccharides type IV. Affects about 1 person every 40,000 live births and affects both sexes equally. It most commonly occurs in healthy offspring of consanguineous parents and heterozygotes, aged between 1-3 years old.

There are two distinct types of Morquio syndrome:

• Type A: carrier such syndrome do not have the enzyme called galactosamine-6-sulfatase.

• Type B: the individual does not produce the enzyme beta-galactosidase in sufficient quantity.

The body needs these enzymes to break down long chains of sugar molecules. In both forms of this disease, abnormally high amounts of glycosaminoglycans are deposited in the body and brain, and can cause organ damage.

Clinical manifestations usually appear between 18 and 24 months of age. The main features are:

• Dwarfism sharp, with impairment of growth from two years of age, and between 5-6 years of age the growth is hurt even more;

• skeletal changes such as kyphosis, sternal projection, genu valgus, with gear similar to ducks, and head proportionately increased;

• Certain facial features such as large mouth, spacing between teeth, short nose and prognathism;

• Chest deformed and short neck;

• Flattening of the vertebrae, with different upper and lower surfaces;

• Hyperextension joints, especially the wrists;

• Hypoplasia odontogenic;

• Corneal opacity;

• Hepatomegaly;

• Injuries heart valves;

• Hearing loss.

Diagnosis and Treatment

The diagnosis of the group of mucopolysaccharidoses should be based on tests of blood and urine. The first evidence allows the dosage of queratossulfatos, which is found at elevated levels in patients with this syndrome. Other useful tests are: ophthalmologic examination with slit lamp; radiographs of the cervical, dorsal and lumbosacral ends; research specific enzyme in tissues associated àimitanciometria audiometry; genetic testing.

To date, there is no specific treatment for Morquio syndrome, the symptoms being treated as they arise.