MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
Genet Couns
; 16(2): 117-28, 2005.
Article
in En
| MEDLINE
| ID: mdl-16080291
ABSTRACT
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome report of ten 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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Abnormalities
/
Telangiectasis
/
Magnetic Resonance Imaging
/
Skin Diseases, Vascular
/
Craniofacial Abnormalities
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Newborn
Language:
En
Journal:
Genet Couns
Journal subject:
ETICA
/
GENETICA MEDICA
Year:
2005
Document type:
Article
Affiliation country:
Italia