gargoylismGargoylism (synonym: disease Pfaundler - Gurler, ipohondricescie, hondrostimulirutee) - a rare hereditary disease caused by disorders of lipid metabolism and mucopolysaccharides. In the result of metabolic disturbances, the accumulation in the cells of the brain, the retina of the eye, peripheral nerves, liver, spleen and other organs of macromolecular lipidnog-polysaccharide complexes.
The typical appearance of a child suffering from gargoylism (Fig): coarse facial features, overhanging forehead, nose stuck, deployed a wide nostrils, thick lips, open mouth, a large tongue, deformed ear. The trunk is shortened, chest funnel. Can be defined umbilical, inguinal-scrotal hernia; enlarged liver, spleen; corneal opacity, kyphosis in nizhnegorodsky Department of the spine; increased excretion of mucopolysaccharides with urine.
Treatment: shows the use of hormonal drugs (ACTG tireoidina) by a doctor. Cm. also Hereditary diseases.