[Nijmegen breakage syndrome associated with pulmonary lymphoma]

An Esp Pediatr. 2002 Dec;57(6):574-7.
[Article in Spanish]

Abstract

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.

MeSH terms

  • Cell Cycle Proteins / genetics
  • Chromosomal Instability
  • DNA Breaks, Double-Stranded
  • Humans
  • Lymphoma, Non-Hodgkin
  • Microcephaly*
  • Nijmegen Breakage Syndrome*
  • Nuclear Proteins / genetics

Substances

  • Cell Cycle Proteins
  • Nuclear Proteins