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[Di George syndrome]
P Urrejola1, A Cattani, F Heusser
1Departamento de Pediatría, Escuela de Medicina, Universidad Católica de Chile.
Insights
This study presents two Di George syndrome cases, highlighting partial forms with varied cardiac and hypocalcemic symptoms. One patient survived with hypoparathyroidism, while the other succumbed to severe cardiac defects.
Area of Science:
- Genetics
- Pediatrics
- Immunology
Background:
- Di George syndrome, a condition caused by a 22q11.2 chromosomal deletion, presents with a spectrum of clinical manifestations.
- Early diagnosis and management are crucial for improving outcomes in affected individuals.
Observation:
- Two patients diagnosed with Di George syndrome at 4 months and 16 days old exhibited distinct clinical features.
- Key symptoms included hypocalcemic convulsions, characteristic facial anomalies (e.g., hypertelorism, micrognathia), and significant cardiac malformations.
Findings:
- One patient presented with a vascular ring and hypoparathyroidism, surviving with repaired cardiac defects and no immunodeficiency.
- The second patient had Tetralogy of Fallot with pulmonary atresia, leading to death at 16 days, with necropsy revealing absent parathyroid glands and a normal thymus.
Implications:
- These cases suggest the existence of partial Di George syndrome phenotypes, emphasizing the variability of the condition.
- Understanding these variations is vital for accurate diagnosis, tailored treatment strategies, and genetic counseling.
Abstract:
Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.