Deletion 22q11.2 syndrome--implications for the intensive care physician.
OBJECTIVE
To report on the experience of a pediatric intensive care unit (PICU) with patients with deletion 22q11.2 syndrome: 1) to delineate the clinical characteristics and management of these patients; 2) to assess whether these patients were managed appropriately, especially in terms of blood transfusion; and 3) to make recommendations for PICU management.


METHODS
Retrospective assessment of medical records of patients with fluorescent in situ hybridization-proven 22q11 deletion admitted to the PICU at the Children's Hospital at Westmead, Sydney.


METHODS
PICU in a tertiary university-affiliated children's hospital.


METHODS
Sixty-five consecutive admissions in 40 patients with diagnosis of 22q11 deletion over a 4-yr period.


METHODS
None.


RESULTS
Thirty-seven (57%) of 65 admissions were postoperative cardiac surgical and accounted for the most common reason for admission to the PICU. Thirteen (20%) admissions were for velopharyngeal/laryngeal problems. Four (6%) admissions were associated with hypocalcemia, with two being first presentations. Five (12.5%) of 40 patients had immune dysfunction, one of whom developed cytomegalovirus pneumonitis. Twenty-nine (72.5%) patients received blood products either immediately before PICU admission or in the PICU. Of these, 16 received nonirradiated cellular blood products. There were two deaths from complications of congenital heart disease.


CONCLUSIONS
PICUs need to be familiar with deletion 22q11.2 syndrome, especially the recommended use of irradiated and cytomegalovirus-seronegative blood components in these immunocompromised patients. The guidelines were inconsistently followed in the cohort of patients reported here. The extent of this problem may be more widespread in PICUs, and we recommend that individual units review their practice in this regard. Hypocalcemia may manifest at any time, and a regular survey of the calcium status is required in the intensive care setting. Admission to PICU should afford the opportunity to invite subspecialty referral and optimize extended care.
Jatana
Vishal
V
Paediatric Intensive Care Unit, The Children's Hospital at Westmead, New South Wales, Australia. vishaljatana@ausdoctors.net
Gillis
Jonathan
J
Webster
Boyd H
BH
Adès
Lesley C
LC
D000293:Adolescent; D001769:Blood / Q000528:radiation effects; D001803:Blood Transfusion; D006348:Cardiac Surgical Procedures; D002648:Child; D002675:Child, Preschool; D003422:Critical Care; D003587:Cytomegalovirus / Q000302:isolation & purification; D003586:Cytomegalovirus Infections / Q000517:prevention & control; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D019983:Guideline Adherence; D006801:Humans; D016867:Immunocompromised Host; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D015278:Intensive Care Units, Pediatric; D009894:Opportunistic Infections / Q000517:prevention & control; D011184:Postoperative Period; D012189:Retrospective Studies