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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer Berlin Heidelberg

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DOI

10.1007/bf02424744

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1432-1076

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Auto-immune pancytopenia in a child with DiGeorge syndrome

Authors: Bénédicte Bruno, Catherine Barbier, Anne Lambilliotte, Christian Rey, Dominique Turck,

Publish Date: 2002/06/13
Volume: 161, Issue:7, Pages: 390-392
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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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Other Papers In This Journal:

  1. Massive gastrointestinal haemorrhage in isolated intestinal Henoch-Schonlein purpura with response to intravenous immunoglobulin infusion
  2. Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndrome
  3. Auto-immune pancytopenia in a child with DiGeorge syndrome
  4. Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis
  5. Evaluation of the Omron MX3 Plus monitor for blood pressure measurement in adolescents
  6. Paroxetine during breast-feeding: infant weight gain and maternal adherence to counsel
  7. Characteristics of the menstrual cycle in 13-year-old Flemish girls and the impact of menstrual symptoms on social life
  8. Proportional assist versus assist control ventilation in premature infants
  9. Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype
  10. Eosinophilic tubulointerstitial nephritis on treatment with isotretinoin
  11. A European Society of Paediatric and Neonatal Intensive Care (ESPNIC) survey of European critical care management of young people
  12. Clinical practice
  13. Parameters affecting length of stay in a pediatric emergency department: a retrospective observational study
  14. Clustering of (auto)immune diseases with early-onset and complicated inflammatory bowel disease
  15. Risk factors for ventilator-associated pneumonia in the neonatal intensive care unit: a meta-analysis of observational studies
  16. Onset of acquired autoimmune hypothyroidism in infancy: a presentation of delayed gross-motor development and rhabdomyolysis
  17. Unusual clinical presentation of primary hypothyroidism in a very young infant caused by autoimmune thyroiditis: case report and update of the literature
  18. A quality improvement initiative to reduce central line infection in neonates using checklists
  19. Cognition and the risk of eating disorders in Spanish adolescents: the AVENA and AFINOS studies
  20. Transient antiphospholipid antibodies associated with acute infections in children: a report of three cases and a review of the literature
  21. Eosinophilic tubulointerstitial nephritis on treatment with isotretinoin

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