Cockcaine syndrome

Syndrome is also very rare. Inherited by autosomal recessive type, while men and women get sick with the same frequency. In case of development of this pathology, it is possible to notice atrophic changes from the skin and subcutaneous fat, the thickness of which decreases markedly, there is increased sensitivity to sunlight, the size of the head is excessively small, as disproportionate dwarfism becomes more pronounced, and signs of mental retardation appear. With a more thorough examination in a specialized hospital, pathological changes from the side of the organ of vision are revealed( degenerative changes in the retina, atrophy of the optic nerve).Such people often suffer from hearing loss down to deafness. In addition, often observed violations of the nervous system( ataxia, peripheral neuropathy).

Children with this hereditary pathology are born absolutely normal, absolutely not differing from healthy ones. Signs of the disease can develop very early, at the age of 6 months, but in most cases begin to appear in the 2-3rd year of life. The first manifestation of Cockcane syndrome is increased sensitivity to sunlight of open areas of the body, which is manifested in the appearance after insolation of swelling and redness, which are located on the face in the form of a butterfly. Sometimes bulletic eruptions may appear. In addition, the child begins to noticeably lag behind in growth from his peers, lags behind also in the mass, mental development, differs emotional instability, a violation of gait, speech. Patients have a characteristic appearance: they are exhausted, have low growth, small head, senile appearance, "bird's" nose, sunken eyes, big ears, upper jaw over-protruding forward, front teeth strongly inclined forward, limbs disproportionately long, hands and feet large, cyanotic staining of the skin of the tip of the nose, ears, fingers and lips, joints are deformed, there is a curvature of the spine, the thorax is narrow. When carrying out an X-ray study, thickening of the skull bones, deposits of calcium salts in the cranial cavity and some other characteristic signs of the syndrome under consideration are revealed. As a result of congenital maldevelopment of glands, the intensity of sweat and lacrimation is reduced, hair is thin, rare, graying early. In addition to changes from the retina, it is possible to note the appearance of photophobia, corneal opacity, cataract. Disturbances from the nervous system are usually manifested by stuttering and pathological movements of the eyeballs. Sexual development is in most cases violated. The prognosis with this syndrome is unfavorable, the disease progresses constantly, in most cases it ends with a lethal outcome between 20 and 30 years from the consequences of vascular atherosclerosis.

Adequate treatment of has not yet been developed, and the current one is completely ineffective. It is possible to carry out a diagnosis during pregnancy, which enables a woman to decide on the birth of this child with such a genetic defect.