MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: Report of ten cases and review of the literature

Livia Garavelli, K. Leask, C. Zanacca, S. Pedori, G. Albertini, E. Della Giustina, G. F. Croci, C. Magnani, G. Banchini, J. Clayton-Smith, M. Bocian, H. Firth, J. A. Gold, J. Hurst

Research output: Contribution to journalArticlepeer-review

Abstract

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report often cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC - MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Original languageEnglish
Pages (from-to)117-128
Number of pages12
JournalGenetic Counseling
Volume16
Issue number2
Publication statusPublished - 2005

Keywords

  • Cutis Marmorata
  • Hemihypertrophy
  • M-CMTC
  • Macrocephaly
  • Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome
  • Overgrowth

ASJC Scopus subject areas

  • Genetics(clinical)

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