PARTIAL DIGEORGE-SYNDROME AT THE AGE OF 34

Citation
A. Hirotani et al., PARTIAL DIGEORGE-SYNDROME AT THE AGE OF 34, Internal medicine, 33(7), 1994, pp. 418-421
Citations number
NO
Categorie Soggetti
Medicine, General & Internal
Journal title
ISSN journal
09182918
Volume
33
Issue
7
Year of publication
1994
Pages
418 - 421
Database
ISI
SICI code
0918-2918(1994)33:7<418:PDATAO>2.0.ZU;2-V
Abstract
A 34-year-old man with partial DiGeorge syndrome suffered from seizure s 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. Immunolo gical studies revealed the presence of immature T cells (CD 38+, OKT 9 +), although the subsets and function of his T cells were almost norma l. The facts that the cardiovascular anomaly and immunodeficiency were mild and the hypoparathyroidism was well controlled, may account for his survival to this age.