dysplasia (abnormal development of tissues or organs) or septo optic Syndrome De Morsier is a rare disease, by default in the hypothalamus (a part of the brain). Is hypopituitarism (low pituitary function) associated with lack of growth hormone or GH associated with hypoplasia (incomplete or defective development) of unilateral or bilateral optic nerve.
The cause of the disease is unknown but is associated with motherhood a lot of young women.
Clinical manifestations include blindness, absence of septum pellucidum (a part of the brain), endocrine disruption are highly variable, most often is that the deficit affects only the GH, but there may be many deficits of pituitary hormones including diabetes insipidus .
stunting appears that it may begin three months of age, babies often have sleep apnea (breathing), hypotonia (low tone abnormally decreased muscle) muscle, convulsions, jaundice (abnormal yellowing of the skin) prolonged hypoglycemia (low blood glucose levels, sugar in the blood) without hyperinsulinemia (increased blood insulin levels, causing hypoglycemia), and micropenis in boys, psychomotor retardation (delayed acquisition of skills requiring coordination of muscular and mental activity).
process is usually sporadic, but has been reported in first cousins.
This disease has no cure, although some time ago have begun to perform stem cell treatments.
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