Hematological abnormalities and 22q11.2 deletion syndrome
Rev. bras. hematol. hemoter
;
33(2): 151-154, 2011. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-596306
ABSTRACT
The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient with 22q11DS presenting thrombocytopenia and large platelets and to review the literature. The patient, a 13-year-old boy, was originally evaluated due to craniofacial dysmorphia and speech delay. He also had a history of behavioral changes, neuropsychomotor delay and recurrent otitis/sinusitis. The identification of a 22q11.2 microdeletion by fluorescent in situ hybridization diagnosed the syndrome. Despite his hematological alterations, he only had a history of epistaxis and bruising of the upper and lower limbs. Assessments of the prothrombin time, thrombin time, partial thromboplastin time, bleeding time, fibrinogen levels and platelet aggregation (including the ristocetin induced platelet aggregation test) were all normal. Hematological alterations observed in 22q11DS are directly related to the genetic disorder itself (especially in respect to deletion of the GPIb gene) and secondary to some clinical findings, such as immunodeficiency. Macrothrombocytopenia is increasingly being considered a feature of the broad spectrum of 22q11DS and may potentially be a clinical marker for the syndrome.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Trombocitopenia
/
Plaquetas
/
Síndrome de Bernard-Soulier
/
Síndrome de DiGeorge
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
Hematologia
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Hospital Nossa Senhora da Conceição/BR
/
Universidade Federal de Ciências da Saúde de Porto Alegre/BR
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