DI-George syndrome in adult female with hypocalcemia and seizures: A case report
Abstract
Hypocalcemia is one of the causes for seizure disorder. Hypocalcemia when accompanied by hyperphosphatemia, low PTH levels in the background of normal renal parameters should raise suspicion of Primary hypoparathyroidism. Di George syndrome is a rare but important genetic cause of Primary hypoparathyroidism. 10% of cases have Autosomal dominant transmission. Thymic hypoplasia, cardiac abnormalities, facial abnormalities and developmental delay are also seen. Hypocalcemia as a sole abnormality in Di George syndrome is a relatively rare presentation which is seen in our index case.
Fields of Study & Subjects
Immunodeficiency and Autoimmune Disorders
Parathyroid Disorders and Treatments
Genomics and Rare Diseases
Publication details
- Journal / source
- International Journal of Endocrinology Research
- Volume
- 8
- Issue
- 1
- Pages
- 01–04
- Publication date
- 1 January 2026