Di-Geroge syndrome Flashcards
(6 cards)
1
Q
Most common
among infants
defect in cellular immunity seen?
A
Di-Geroge syndrome
2
Q
deficiency in ?
A
Partial T-cell and B cell deficiency that improves with age
3
Q
CATCH –22 (mnemonic)
A
C – Cardiac anomalies [ Truncus arteriosus, ToF, VSD ] (only in di-George
A – Abnormal face [ Micrognathia ]
T – Thymic hypoplasia
C – Cleft palate
H – Hypocalcemia(neonatal seizures,long QT interval)
4
Q
Pathogenesis
A
Defect in 3rd and 4th pharyngeal pouch
during early embryogenesis
5
Q
Screening
A
involves complete T cell system workup and FISH –
Fluorescence in situ hybridization
6
Q
Treatment
A
- Thymus tissue transplantation
