Wednesday, September 18, 2019


Q: 24 year old female with DiGeorge syndrome (DGS) is admitted to ICU after her cardiac surgery for postop care. Which electrolyte abnormality should be carefully watched?

A) Hyperkaelemia
B) Hypokalemia
C) Hypernatremia
D) Hypocalcemia
E) Hypermagnesemia

Answer: D

DiGeorge syndrome (DGS) is caused by a heterozygous chromosomal deletion at 22q11.2. DiGeorge syndrome (DGS) is associated with defective development of the pharyngeal pouch system. It consists of a triad

  • conotruncal cardiac anomalies,
  • hypoplastic thymus (causing T cells deficit)
  • parathyroid hypoplasia (causing hypocalcemia) 

Although the disease is mostly limited to children, a large number of adults reach adulthood and many get diagnosed as a parent of DGS! Adults have relatively lower cardiac anomalies but higher palatal and mental disabilities.



1. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159:332. 

2. Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet 1999; 86:359.

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