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. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
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 VWMpatients 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. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Authors: Marjo S van der Knaap; Joshua L Bonkowsky; Adeline Vanderver; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Enrico Bertini; Genevieve Bernard; Seyed Ali Fatemi; Nicole I Wolf; Elise Saunier-Vivar; Robert Rauner; Hanka Dekker; Pieter van Bokhoven; Peter van de Ven; Prisca S Leferink Journal: Neurol Genet Date: 2022-02-02
Authors: S D Roosendaal; T van de Brug; C A P F Alves; S Blaser; A Vanderver; N I Wolf; M S van der Knaap Journal: AJNR Am J Neuroradiol Date: 2021-04-01 Impact factor: 4.966