Di Georgie's syndrome
Contents:
Description:
Di Georgie's syndrome (Xing.: inborn lack of a thymus and epithelial bodies) A.M. DiGeorge — the American endocrinologist and the pediatrician is for the first time described.
Reasons of the Syndrome of Di Georgie:
The disease is caused by an inborn aplasia (agenesia) of a thymus gland and epithelial bodies. From here its main pathogenetic characteristics are disturbance of phosphorus-calcium exchange and immunological T-cellular insufficiency. Approximately in 80% of all cases the syndrome is connected with the chromosomal deletion described as del (qll.2q1l.2). The autosomal mode of inheritance with various expressivity is supposed.
Symptoms of the Syndrome of Di Georgie:
External signs are characteristic:
- hypertelorism, anti-Mongoloid section of eye cracks, micrognatia;
- in the period of a neonatality gnpokaltsiyemichesky spasms, a laryngospasm can be observed;
- at more advanced age immunodeficiency signs are observed: generalized infections, abscesses, it is recurrent pneumonia, fungal infections;
- clinical heterogeneity of a syndrome is characteristic: cardiovascular defects, kraniofatsialny anomalies, delay of physical and mental development.
Clinical diagnosis is difficult. The hypocalcemia in combination with clinical signs of an immunodeficiency has to attract attention. The diagnosis is confirmed by a research of concentration of parathyroid hormone (<10pg/L) и компьютерной томографией - отсутствием вилочковой железы.
The child with Di Georgie's syndrome
Thymus gland hypoplasia at Di Georgie's syndrome
Treatment of the Syndrome of Di Georgie:
As shows clinical experience, convulsive attacks and a laryngospasm which can be observed at newborns and children of the first months of life can pose a threat of life. Therefore purpose of drugs of calcium and vitamin D even before full confirmation of the diagnosis is necessary. Further correction of an immunodeficiency is shown. There is a brief experience of transplantation of a fetalis thymus gland.
