Sunday, December 20, 2015

image spot dx 68

Nijmegen breakage syndrome

facies of nijmegen breakage

Other DNA repair defect disorders include Nijmegen breakage syndrome (NBS), an autosomal recessive disorder described in the Dutch town of that name, and characterized by microcephaly
with mild to moderate mental retardation, ‘bird-like’ facies, immunodefi ciency, clinical radiation sensitivity and chromosomal instability. Bacterial sinopulmonary infection is common, as is
hypogammaglobulinaemia and CD4+ T lymphopenia with diminished T-lymphocyte proliferative responses. Absence of ataxia, together with normal α-fetoprotein levels, distinguishes NBS from
ataxia-telangiectasia. Specific dermatological features include café-au-lait spots and vitiligo, as well as skin infections due to fungal infection, and cutaneous manifestations of viral infection,
particularly due to herpes viruses . Sun sensitivity of the eyelids and occasional cutaneous telangiectasia have been described .

Treatment with antibiotic prophylaxis or immunoglobulin replacement can be helpful. Haematopoietic stem cell transplantation has been successfully performed on rare occasions .


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