DiGeorge syndrome

Background

  • The most common microdeletion disorder in humans[1]
  • As prevalent as 1/2000 people in US
  • 22q11 chromosomal defect
    • Cause by a de novo heterozygous deletion of approximately 2.5 mb in length on chromosome 22q11.[2]
  • Keep in differential for hypocalcemia of unknown etiology in pediatric patient

Clinical features

CATCH-22[3]

  • Additional phenotypes include neurodevelopmental defects and urogenital malformations.
    • Congenital kidney and urinary tract anomalies are present in approximately 30% of the patients with the DiGeorge syndrome.[4]

Differential diagnosis

Evaluation

Management[5]

  • Disease involves multiple systems and thus management depends on presentating chief complaint.
  • Identify and treat hypocalcemia as these patients are at risk for seizures[6]
    • Vitamin D supplementation may also be needed
  • Psychiatric Disorders (60%)
  • Thrombocytopenia (30%)
  • Hypothyroidism (20%)
  • Cholelithiasis (20%)

Disposition

See also

References

  1. Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
  2. Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
  3. Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.
  4. Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.
  5. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039
  6. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.039