Nijmegen breakage syndrome: a neuropathological study.

Introduction: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, which belongs to the DNA repair disorders. It is characterized by microcephaly, typical facial appearance, immunodeficiency, X-ray hypersensitivity and predisposition of cancer. Material and methods: Neuropathological examination of the brain was performed on a male NBS patient with moderate mental retardation, who was successfully treated for non-Hodgkin's lymphoma at the age of 19 years. He died at the age of 31 years as a result of carcinomatous peritonitis. Results: Severe microcephaly (> 3SD<mean) especially pronounced in the frontal lobe was observed. There was a very simplified gyral pattern with reduction of the tertiary gyri. A myelinated bundle 6 × 3.5 mm thick considered to be a large remnant of the striae longitudinales mediales and laterales was found over the whole length on top of the corpus callosum. There was an incomplete enrolling of the hippocampus and hypoplasia of the inferior vermis. Conclusions: The neuropathological findings in this patient are concurrent with radiological findings in NBS patients and with limited earlier neuropathological studies. These findings suggest a role for a DNA-repair gene in corticogenesis in man as has already been suggested in animal studies of other DNA-repair genes before. [ABSTRACT FROM AUTHOR]