Internal medicine (Tokyo, Japan) · 1994
Partial DiGeorge syndrome at the age of thirty-four.
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Hirotani A, Morimoto S, Koh E, Ogihara T
Аннотация
A 34-year-old man with partial DiGeorge syndrome suffered from seizures and mental retardation from the age of three years. He was diagnosed as having primary hypoparathyroidism by the Ellsworth-Howard test at the age of 22. He was also found to have a right aortic arch. Immunological studies revealed the presence of immature T cells (CD 38+, OKT 9+), although the subsets and function of his T cells were almost normal. The facts that the cardiovascular anomaly and immunodeficiency were mild and the hypoparathyroidism was well controlled, may account for his survival to this age.