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

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4 Citations (Scopus)

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 2009

Fingerprint

Magnetic Resonance Imaging
Esophageal Atresia
Microcephaly
Proto-Oncogenes
Neuroimaging
Extremities
Mutation
White Matter
Oculodigitoesophagoduodenal syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome",
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.",
keywords = "Feingold syndrome, Magnetic resonance imaging, Microcephaly-mesobrachy phalangetracheoesophageal fistula, Microcephaly-oculo-digito-esophageal-duodenal syndrome, MODED syndrome, MTT syndrome, MYCN, Oculo-digito-esophageal- duodenal syndrome, ODED syndrome",
author = "Lehman, {Vance T} and Patterson, {Marc C.} and Dusica Babovic-Vuksanovic and Charlotte Rydberg",
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AU - Lehman, Vance T

AU - Patterson, Marc C.

AU - Babovic-Vuksanovic, Dusica

AU - Rydberg, Charlotte

PY - 2009/12

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N2 - 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.

AB - 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.

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KW - MTT syndrome

KW - MYCN

KW - Oculo-digito-esophageal- duodenal syndrome

KW - ODED syndrome

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