Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome

American Journal of Medical Genetics. Part a
Vance T LehmanCharlotte Rydberg

Abstract

Feingold syndrome is a rare autosomal dominant condition that is characterized by variable expressivity of microcephaly, limb malformations, esophageal atresia, and a host of other malformations. This syndrome results from mutations in the MYCN proto-oncogene. Few examples of cross-sectional imaging of the brain in these patients are found in the literature. We present a patient who was found to have areas of cerebral and cerebellar white matter hyperintensity with T2 weighted magnetic resonance (MR) imaging. To the best of our knowledge, this finding has not been previously described. While the significance and pathologic basis of this finding are unknown, its recognition is important since it has potential to be confused with imaging findings in other conditions. Moreover, it is likely to be observed in the future due to increased use of MR imaging.

References

Oct 1, 2003·American Journal of Medical Genetics. Part a·Jacopo CelliHan G Brunner
Mar 3, 2004·American Journal of Medical Genetics. Part a·Orazio GabrielliUgo Salvolini
Aug 27, 2004·Journal of Perinatology : Official Journal of the California Perinatal Association·Thomas E Herman, Marilyn J Siegel
Aug 2, 2008·American Journal of Medical Genetics. Part a·Bettina BlaumeiserJürgen Kohlhase

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Citations

Dec 22, 2016·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Matthias W WagnerThierry A G M Huisman

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