title: Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects.
abstract: We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia or velofacial or cardiac abnormalities at the time of diagnosis, which masked underlying DG. This case outlines the difficulties in making the diagnosis of SCID in a timely manner and illustrates the variation in presentation of the 22q11.2 deletion syndrome. There should be a high index of suspicion for primary immunodeficiency among children with severe infections and, because management may vary, DG anomaly should be considered in the differential diagnosis of T- B+ natural killer+ SCID.
authors.affiliation: Division of Allergy and Immunology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.
authors.forename: Salem
authors.initials: S
authors.lastname: Al-Tamemi
authors.forename: Bruce
authors.initials: B
authors.lastname: Mazer
authors.forename: David
authors.initials: D
authors.lastname: Mitchell
authors.forename: Pedro
authors.initials: P
authors.lastname: Albuquerque
authors.forename: Alessandra M V
authors.initials: AM
authors.lastname: Duncan
authors.forename: Christine
authors.initials: C
authors.lastname: McCusker
authors.forename: Nada
authors.initials: N
authors.lastname: Jabado
mesh_terms: D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D006996:Hypocalcemia / Q000150:complications; D007223:Infant; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis*