Open AccessCASE REPORT : PARTIAL DIGEORGE SYNDROME PRESENTING IN ADULTHOOD
Author(s) -
Raghav R Nagpal,
Mitesh Thakkar,
Jaishree Ghanekar
Publication year - 2020
Publication title -
paripex indian journal of research
Language(s) - English
DOI - 10.36106/pijr/5600530
Subject(s) - digeorge syndrome , hypoparathyroidism , medicine , abnormality , penetrance , pediatrics , presentation (obstetrics) , renal dysplasia , surgery , biology , phenotype , genetics , psychiatry , kidney , gene
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.