TY - JOUR
T1 - Joubert syndrome and related disorders
T2 - Spectrum of neuroimaging findings in 75 patients
AU - Poretti, A.
AU - Huisman, T. A.G.M.
AU - Scheer, I.
AU - Boltshauser, Eugen
PY - 2011/9
Y1 - 2011/9
N2 - VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.
AB - VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.
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U2 - 10.3174/ajnr.A2517
DO - 10.3174/ajnr.A2517
M3 - Article
C2 - 21680654
AN - SCOPUS:80052882184
SN - 0195-6108
VL - 32
SP - 1459
EP - 1463
JO - American Journal of Neuroradiology
JF - American Journal of Neuroradiology
IS - 8
ER -