Cockayne's syndrome

Also known as outlined, small head, striatum cerebellar calcification and white matter malnutrition syndrome; Dwarfism. retinal atrophy and deafness syndrome. Cause pathogenesis is still unclear, with autosomal recessive inheritance. Clinical manifestations in early feature old infant with normal two-year-old after onset. Face appeared, enophthalmos, short stature, back bow, buckling limbs, muscle thin build, light skin sensitivity, exposure of the body is often blisters; retinal degeneration, optic nerve atrophy and conductive deafness; brain tissue and blood vessels with extensive intracranial calcification; All of the patients had mental retardation. Pupillary dilation of adverse drug reactions. Differential diagnosis (1) morning, the old syndrome (progeria) called Hutchinson-Gilfor d syndrome. Children also appeared in the early senescence feature may be to autosomal recessive inheritance. Patients with more men than women, age within a normal growth and development, gradually change occurred as early as the old. Typical cases of short stature, baldness, thinning of the skin, subcutaneous tissue atrophy, and short fingernails atrophy, muscle thin, universal osteoporosis. Childhood that occurred arteriosclerosis, can be associated with myocardial infarction and cerebral vascular diseases. Most normal intelligence. Hyperlipoidemia, growth hormone production than the normal 50% reduction. Cockayne's syndrome and in patients with growth hormone, blood lipids, cholesterol and phospholipid ratio were normal. (2) Werner syndrome is characterized by children or late adolescence occurred aging, also autosomal recessive genetic, the incidence of gender equal. Its aging signs and on two similar syndrome, blood cholesterol levels normal. In addition, there are gonadal dysgenesis. 50% of the patients with mental retardation, 45% of the patients developed diabetes, 10% of patients experienced tumor.