Abstract.
We report on the development of auto-immune pancytopenia in a child with DiGeorge syndrome carrying the 22q11 microdeletion. She had congenital heart disease, dysmorphic facies, thymic hypoplasia, immunodeficiency, velopharyngeal insufficiency, scoliosis, and a hearing deficit. She had a low T-cell count with a normal CD4/CD8 ratio, IgA deficiency and a normal lymphoblastic response to mitogens. She has presented with pancytopenia since 10 years of age (leucocytes 3,300/mm3, haemoglobin 107 g/l, platelets 80,000/mm3). Platelet-associated antibodies, anti-neutrophil antibodies and Coombs' positive red cells were present. At 14 years of age, she presented with a severe episode of haemolysis with pancytopenia. Steroids were effective in treating the pancytopenia at a dose of 2 mg/kg per day for 6 weeks. Since 15 years of age, she has had episodes of acrocyanosis. At 16 years of age, she still had mild pancytopenia without any treatment. Conclusion: the clinical spectrum of the 22q11 microdeletion syndrome is very broad. This case suggests that auto-immune disease such as pancytopenia is part of the 22q11 microdeletion syndrome.
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Bruno, B., Barbier, C., Lambilliotte, A. et al. Auto-immune pancytopenia in a child with DiGeorge syndrome. Eur J Pediatr 161, 390–392 (2002). https://doi.org/10.1007/s00431-002-0976-y
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DOI: https://doi.org/10.1007/s00431-002-0976-y