Ltimmune cytopenias in two patients with /velocardiofacial syndrome ~lO, Eli./14. Laurie, AID,Brian W. Berman, AID,Nathaniel H. Robin, MD, Arthur B. Zinn, MD, PbD, and Robert W. Hostoffer, DO We describe two patients with clinical and cytogenetic findings consistent with DiGeorge/vetoeardiofaeiat syndrome who had recurrent cytopenias at presentation. Our observations suggest that recurrent eytopenias may be part of the clinical spec- trum of deletion 22q11.2. We also suggest that the diagnosis of DG/VCF syndrome be considered in patients with unexplained recurrent immune cytopenias in association with cardiac lesions, subtle craniofacial dysmorphisms, and/or learning or behavioral impairments. (d Pediatr 1997; 131:484-6) mia (positive result on antiglobulin [Coombs] test). Variable but generally well compensated hemolysis, immune thrombocytopenia, and neutropenla have persisted since then, with severe, acute ex- Monosomie deletion of chromosomal seg- ment 22ql 1.2 is associated with a broad clinical spectrum, which includes DiGeorge syndrome, velocardiofacial syndrome, and isolated conotruneal heart defect.l-3 Patients with DG syndrome have aortic root defects, craniofacial dysmorphisms, hypoca]cemia, and T-cell deficiencies. 4 VCF syndrome includes cleft palate, conotruncal heart malformations, variable facial dys- morphisms, and learning disabilities, a We here report the first description of VCF syn- drome associated with recurrent immune cympenias. We suggest that these autoim- mune occurrences may be part of the spec- trum of DG/VCF syndromes and that the diagnosis of DG/VCF syndrome be enter- tained in patients with unexplained recur- rent immune cytopenias. From Lhe Department of Pediatrics, Rainbo~ Babies and Childreas Hospital, Cleveland, Ohio, and the Centerfor Human Genetics, Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Clevelang Ohio. Submitted for publication Aug. 28, 1996;accepted Nov. 18, 1996. Reprint requests: Robert W. Hostoffer, DO, Rainbow Babies and Childrens Hospital, Department of Pediatrics, 11100 Euclid Ave., Cleveland, OH 44106-5000. Copyright 9 1997 by Mosby-Year Book,Inc. 0022-3476/97/$5.00 + 0 9/22/79374 CASE REPORT Patient 1 is a 15-year-old boy with cleft palate, sensorineural deafness, scoliosis, recurrent otitis media, splenomegaly, and learning disabilities. The family history is unremarkable; however, the father was not available for interview or examina- tion. The patient was initially seen at age 4 years with autoimmune hemolytic ane- Table L Immunologic profiles aeerbations of hemolysis (positive result on antiglobu]in test) noted at age 10 and 12 years and one episode of severe pancy- topenia occurring at 15 years of age. IT was clinically determined in this patient by low numbers of large platelets, ade- quate bone marrow megakaryocytes, and a positive response to intravenously ad- ministered IgG with prednisone. The pa- 484