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Publication
Instabilidade cromossómica e imunodeficiência - associação essencial no diagnóstico de Síndrome de Nijmegen
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Advisor(s)
Abstract(s)
Introdução: O Síndrome de Quebras de Nijmegen (SQN), é uma doença autossómica recessiva rara, pertencente ao grupo dos síndromes de instabilidade cromossómica, sendo mais prevalente na europa central e do leste.
Caso clínico: Descreve-se o caso de um rapaz de 14 meses, filho de pais ucranianos, que nasceu pequeno para a idade gestacional, com microcefalia e dismorfias faciais, que se tornaram mais evidentes com o crescimento. O estudo complementar revelou instabilidade cromossómica espontânea e induzida, hemoglobina fetal e α-fetoproteína normais e imunodeficiência celular. Estas características sugeriram o diagnóstico de SQN, confirmado pela identificação da mutação fundadora (657del5) em homozigotia, comum na população eslava.
Discussão: O SQN deve ser considerado na presença de microcefalia, características faciais típicas, atraso de crescimento, instabilidade cromossómica e imunodeficiência. O prognóstico é desfavorável pela ocorrência de infeções de repetição e elevada incidência de neoplasias. O seguimento multidisciplinar e a evicção da exposição a radiação ionizante são fundamentais.
Introduction: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder that belongs to the group of chromosomal instability syndromes, more prevalent in Central and Eastern Europe. Clinical case: We describe the case of a 14-month-old boy, born to Ukrainian parents, that presented at birth with microcephaly, small to gestational age and dysmorphic facial characteristics, which became more obvious with age. The complementary study revealed spontaneous and induced chromosomal instability, with normal fetal haemoglobin and α-fetoprotein and cellular immunodeficiency. These features suggested NBS, confirmed by the identification of the founder mutation (657del5) in homozygous state, common in patients of Slavic origin. Discussion: NBS should be considered in the presence of microcephaly, typical facial features, growth retardation, chromosomal instability and immunodeficiency. The prognostic is poor due to the occurrence of frequent infections and the high incidence of cancer. Multidisciplinary follow-up and avoidance of radiation exposition are crucial.
Introduction: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder that belongs to the group of chromosomal instability syndromes, more prevalent in Central and Eastern Europe. Clinical case: We describe the case of a 14-month-old boy, born to Ukrainian parents, that presented at birth with microcephaly, small to gestational age and dysmorphic facial characteristics, which became more obvious with age. The complementary study revealed spontaneous and induced chromosomal instability, with normal fetal haemoglobin and α-fetoprotein and cellular immunodeficiency. These features suggested NBS, confirmed by the identification of the founder mutation (657del5) in homozygous state, common in patients of Slavic origin. Discussion: NBS should be considered in the presence of microcephaly, typical facial features, growth retardation, chromosomal instability and immunodeficiency. The prognostic is poor due to the occurrence of frequent infections and the high incidence of cancer. Multidisciplinary follow-up and avoidance of radiation exposition are crucial.
Description
Keywords
Síndrome de Quebras de Nijmegen instabilidade cromossómica imunodeficiência
Citation
Nascer e Crescer – Birth and Growth Medical Journal 2017; 26(2): 133-7
Publisher
Centro Hospitalar do Porto