Neuropediatrics 2012; 43(01): 022-026
DOI: 10.1055/s-0032-1307456
Original Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Characteristics of Early MRI in Children and Adolescents with Vanishing White Matter

Hannemieke D. van der Lei
1  Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
,
Marjan E. Steenweg
1  Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
,
Frederik Barkhof
2  Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands
,
Ton de Grauw
3  Department of Neurology, Children's Hospital Medical Center, Cincinnati, United States
,
Marc d'Hooghe
4  Department of Neurology/Child Neurology, General Hospital Sint-Jan, Brugge, Belgium
,
Richard Morton
5  Department of Paediatrics, Derbyshire Children's Hospital, Nottingham, United Kingdom
,
Siddharth Shah
6  Bristol Royal Hospital for Children, Bristol, United Kingdom
,
Nicole Wolf
1  Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
,
Marjo S. van der Knaap
1  Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
› Author Affiliations
Further Information

Publication History

10 October 2011

23 December 2011

Publication Date:
19 March 2012 (online)

Abstract

Objective MRI in vanishing white matter typically shows diffuse abnormality of the cerebral white matter, which becomes increasingly rarefied and cystic. We investigated the MRI characteristics preceding this stage.

Design In a retrospective observational study, we evaluated all available MRIs in our database of DNA-confirmed VWM patients and selected MRIs without diffuse cerebral white matter abnormalities and without signs of rarefaction or cystic degeneration in patients below 20 years of age. A previously established scoring list was used to evaluate the MRIs.

Results An MRI of seven patients fulfilled the criteria. All had confluent and symmetrical abnormalities in the periventricular and bordering deep white matter. In young patients, myelination was delayed. The inner rim of the corpus callosum was affected in all patients.

Conclusions In early stages of VWM, MRI does not necessarily display diffuse cerebral white matter involvement and rarefaction or cystic degeneration. If the MRI abnormalities do not meet the criteria for VWM, it helps to look at the corpus callosum. If the inner rim (the callosal-septal interface) is affected, VWM should be considered.