CASE REPORT : PARTIAL DIGEORGE SYNDROME PRESENTING IN ADULTHOOD

Dr Raghav R Nagpal; Dr Mitesh Thakkar; Dr Jaishree Ghanekar

Volume : IX, Issue : VIII, August - 2020

CASE REPORT : PARTIAL DIGEORGE SYNDROME PRESENTING IN ADULTHOOD

Dr Raghav R Nagpal, Dr Mitesh Thakkar, Dr Jaishree Ghanekar

Abstract :

Digeorge syndrome is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations and variable penetrance. Only a few cases of adult presentation of Digeorge Syndrome have been described in the literature. It is also known as velocardiofacial syndrome or CATCH 22 syndrome. Classically abnormal facies, congenital heart disease , thymus dysplasia, cleft palate , hypocalcemia due to hypoparathyroidism are seen. Hypocalcemia is a strong predictor of digeorge syndrome whenever associated with other clinical features. Patients with chromosome 22q11.2 deletion do not always show all components of DGS. Hypoparathyroidism can be the only abnormality and may exist with no accompanying cardiac or immunologic defects. Here we report a case of 28 year old man presenting in adulthood with hypocalcemia induced tetany and diagnosed as having partial Digeorge syndrome.