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

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4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2824-2827
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number12
DOIs
StatePublished - Dec 1 2009

Keywords

  • Feingold syndrome
  • MODED syndrome
  • MTT syndrome
  • MYCN
  • Magnetic resonance imaging
  • Microcephaly-mesobrachy phalangetracheoesophageal fistula
  • Microcephaly-oculo-digito-esophageal-duodenal syndrome
  • ODED syndrome
  • Oculo-digito-esophageal- duodenal syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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