Auto-immune pancytopenia in a child with DiGeorge syndrome.
Eur J Pediatr
; 161(7): 390-2, 2002 Jul.
Article
in En
| MEDLINE
| ID: mdl-12111192
UNLABELLED: 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/mm(3), haemoglobin 107 g/l, platelets 80,000/mm(3)). 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pancytopenia
/
Autoimmune Diseases
/
Chromosomes, Human, Pair 22
/
DiGeorge Syndrome
Type of study:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Child
/
Female
/
Humans
Language:
En
Journal:
Eur J Pediatr
Year:
2002
Type:
Article
Affiliation country:
France