DiGeorge (22q11.2 deletion) syndrome: Management and prognosis
- Christine M Seroogy, MD
Christine M Seroogy, MD
- Associate Professor
- University of Wisconsin Medical School
DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia (resulting from parathyroid hypoplasia). Deletions in chromosome 22q11.2 are present in most patients with DGS, as well as in patients with other similar syndromes, such as velocardiofacial syndrome (VCFS, also called Shprintzen syndrome). These conditions are grouped together under the term chromosome 22q11.2 deletion syndrome (22qDS).
Infants with DGS or 22qDS may have some or all features of the classic triad, in addition to other associated congenital anomalies, listed with percent of individuals affected in the table (table 1). A broad spectrum characterizes the presence and severity of individual features. The severity of each feature appears to be independent of other features. Thus, an infant may have a severe conotruncal cardiac defect but normal calcium and only mild T cell lymphocytopenia or, alternatively, no heart disease but significant hypocalcemia and absent T cells. It is important to establish the presence and extent of abnormalities upon diagnosis and then to manage each one in collaboration with appropriate specialists.
This topic reviews the management and prognosis of patients with DGS and 22qDS, with particular emphasis on immunologic aspects of the disease. Transplantation options for complete DGS are discussed. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of DGS and 22qDS are presented separately. (See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis" and "Syndromes with craniofacial abnormalities", section on 'Velocardiofacial (Shprintzen) syndrome'.)
The early childhood care of patients with DGS is generally best performed by a multidisciplinary team with specialists in the following fields in attendance: otolaryngology, plastic surgery, immunology, cardiology, neurology, social work, dietary, speech pathology, genetics, and endocrinology. An initial evaluation by each specialist team is recommended to establish care, determine the degree of specific organ system involvement, and outline necessary surveillance monitoring and follow-up care. As patients with DGS get older, other associated medical conditions may emerge, such as behavioral and psychiatric conditions, requiring referral to appropriate specialists. Patients with DGS have individualized and often complex medical care needs. The best approach for optimizing quality of life in these patients requires a medical home model that is flexible and adept at facilitating specialized complex care and transitions of care from pediatrics to internal medicine .
ACUTE MANAGEMENT IN INFANTS
The acute management of neonates suspected of having DGS or 22qDS is focused upon evaluation and management of possible hypocalcemia and significant congenital cardiac defects and identification and treatment of infants with complete DGS, a form of severe combined immunodeficiency (SCID) .To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- ACUTE MANAGEMENT IN INFANTS
- Cardiac emergencies
- Feeding and swallowing issues
- Immunologic management of complete DGS
- - Choice of procedure
- - Cultured thymic transplant
- - Hematopoietic cell transplantation
- LONG-TERM MANAGEMENT
- Genetic counseling
- Correction of palatal defects
- Immunologic management of partial DGS
- - Monitoring of immune function
- - Infections
- - Vaccination
- SOCIETY GUIDELINE LINKS
- SUMMARY AND RECOMMENDATIONS