TY - JOUR
T1 - Reader response
T2 - Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
AU - Wolf, Nicole I.
AU - Van Der Knaap, Marjo S.
PY - 2020/3/10
Y1 - 2020/3/10
N2 - With interest we read the report by Patel et al.1 concerning a patient with Jacobsen syndrome due to an 11q23-11q24 deletion and MRI evidence for leukodystrophy with improvement at a follow-up, substantiated by FLAIR images. The authors claimed that these abnormalities represent hypomyelination. Hypomyelination is defined as a significant and permanent myelin deficit.2 Its MRI appearance is characterized by a diffusely hyperintense T2 white matter (WM) signal, which is less high than the signal in other leukodystrophies2,3 and certainly less high than the WM signal in the patient discussed here,1 who has strongly T2-hyperintense WM signal abnormalities.
AB - With interest we read the report by Patel et al.1 concerning a patient with Jacobsen syndrome due to an 11q23-11q24 deletion and MRI evidence for leukodystrophy with improvement at a follow-up, substantiated by FLAIR images. The authors claimed that these abnormalities represent hypomyelination. Hypomyelination is defined as a significant and permanent myelin deficit.2 Its MRI appearance is characterized by a diffusely hyperintense T2 white matter (WM) signal, which is less high than the signal in other leukodystrophies2,3 and certainly less high than the WM signal in the patient discussed here,1 who has strongly T2-hyperintense WM signal abnormalities.
UR - http://www.scopus.com/inward/record.url?scp=85081633330&partnerID=8YFLogxK
U2 - https://doi.org/10.1212/WNL.0000000000009070
DO - https://doi.org/10.1212/WNL.0000000000009070
M3 - Comment/Letter to the editor
C2 - 32152241
SN - 0028-3878
VL - 94
SP - 458
JO - Neurology
JF - Neurology
IS - 10
ER -