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Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome
  1. K H Chrzanowska1,
  2. M Bekiesinska-Figatowska2,
  3. S Józwiak3
  1. 1Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland
  2. 2Department of Diagnostic Imaging, Central Railway Hospital, Warsaw, Poland
  3. 3Department of Neurology, The Children's Memorial Health Institute, Warsaw, Poland
  1. Correspondence to:
 Dr K H Chrzanowska, Department of Medical Genetics, The Children's Memorial Health Institute, Al Dzieci Polskich 20, 04-736 Warsaw, Poland;
 chrzanowska{at}czd.waw.pl

https://doi.org/10.1136/jmg.39.5.e25

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    We read with interest the article by Maraschio et al1 on “A novel mutation and novel features in Nijmegen breakage syndrome”. The authors stressed their findings of malformations not previously described in NBS patients, namely agenesis of the corpus callosum, dilatation of the ventricles, and cerebral hypotrophy. However, they seem to have overlooked our earlier report on cranial MRI findings in 10 Polish NBS patients, first presented in 1998 at the 30th Annual ESHG Meeting,2 and recently published.3 Four of the 10 Polish patients described showed agenesis of the posterior parts of the corpus callosum (splenium and partial trunk). Callosal hypoplasia was accompanied by colpocephaly (widening of trigones and occipital horns) and dilatation of the temporal horns of the lateral ventricles. These anomalies of the ventricles are associated developmentally with agenesis of the corpus callosum. The enlargement of the trigones and occipital horns reflects …

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