eMedicine Specialties > Dermatology > Pediatric Diseases

DiGeorge Syndrome: Treatment & Medication

Author: Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine
Contributor Information and Disclosures

Updated: Nov 6, 2009

Treatment

Medical Care

  • Hypoparathyroidism in DiGeorge syndrome patients is controlled with vitamin D and calcium supplementation. Vitamin D at 1-5 mcg/d and calcium at 2-3 g/d are required.
  • Recurrent infection is treated with antibiotics appropriate for the cultured organism.
  • Adoptive transfer of mature T-cells (ATMTC) through bone marrow transplantation can be used in DiGeorge syndrome patients.29
  • DiGeorge syndrome remains difficult to treat.
  • The following clinical guideline summaries may be helpful:

Surgical Care

  • Cardiac and great vessel defects should be corrected in DiGeorge syndrome patients.
  • Thymus transplantation can help reconstitute immune function in infancy.14,32,33,34,35
  • Surgical treatment by velopharyngoplasty of noncleft velopharyngeal insufficiency has generally been effective in DiGeorge syndrome patients.36,37
  • Surgical reconstruction to repair congenital anterior glottic webs or tracheotomy to establish more competent airway can be performed in DiGeorge syndrome patients.12
  • Surgical repair of cleft palate may be needed in DiGeorge syndrome patients.38

Consultations

  • A pediatric cardiothoracic surgeon may help in the evaluation and correction of cardiac and great vessel defects.
  • An endocrinologist may be consulted regarding the management of hypoparathyroidism.
  • An infectious disease specialist may assist in the management of recurrent infections.
  • An ear, nose, and throat specialist may be needed to manage structural abnormalities in the airway.
  • Ophthalmologists can assess for ocular malformations.
  • A genetic counselor can help with counseling.24

More on DiGeorge Syndrome

Overview: DiGeorge Syndrome
Differential Diagnoses & Workup: DiGeorge Syndrome
Treatment & Medication: DiGeorge Syndrome
Follow-up: DiGeorge Syndrome
References
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References

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Further Reading

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Keywords

DiGeorge syndrome, DiGeorge’s syndrome, DiGeorge’s anomaly, DiGeorge anomaly, congenital thymic aplasia, third and fourth branchial pouch syndrome, CATCH-22 syndrome, DiGeorge anomaly and velocardiofacial syndrome, Shprintzen syndrome, 1,  2 Sedlakova syndrome, conotruncal anomaly face syndrome, monosomy 22q11, severe combined immunodeficiency, severe combined immune deficiency, SCID, 22qDS

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Contributor Information and Disclosures

Author

Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine
Suguru Imaeda, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Connecticut State Medical Society, Sigma Xi, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Mark A Crowe, MD, Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine
Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

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