TY - JOUR
T1 - Tecto-cerebellar dysraphism with occipital encephalocele
T2 - Not a distinct disorder, but part of the joubert syndrome spectrum?
AU - Poretti, A.
AU - Singhi, S.
AU - Huisman, T. A.G.M.
AU - Meoded, A.
AU - Jallo, G.
AU - Ozturk, A.
AU - Boltshauser, E.
AU - Tekes, A.
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
PY - 2011
Y1 - 2011
N2 - Magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) findings in a 4-year-old child with occipital encephalocele, cerebellar vermis hypogenesis, and tectal malformation are presented. The neuroimaging findings are reminiscent of tectocerebellar dysraphism with an occipital encephalocele (TCD-OE). Additionally, elongated, thickened, and horizontally orientated superior cerebellar peduncles, an abnormally deepened interpeduncular fossa, subependymal heterotopia, and focal cortical dysplasia were noted. Color-coded fractional anisotropy (FA) maps revealed an absence of the decussation of the superior cerebellar peduncles. These findings are highly suggestive of Joubert syndrome and related disorders (JSRD). Our report and the review of the published cases suggest that TCD-OE is not a nosological entity, but may represent the structural manifestation of heterogeneous disorders such as the JSRD spectrum. DTI may be very helpful to differentiate between similar midbrain-hindbrain malformations.
AB - Magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) findings in a 4-year-old child with occipital encephalocele, cerebellar vermis hypogenesis, and tectal malformation are presented. The neuroimaging findings are reminiscent of tectocerebellar dysraphism with an occipital encephalocele (TCD-OE). Additionally, elongated, thickened, and horizontally orientated superior cerebellar peduncles, an abnormally deepened interpeduncular fossa, subependymal heterotopia, and focal cortical dysplasia were noted. Color-coded fractional anisotropy (FA) maps revealed an absence of the decussation of the superior cerebellar peduncles. These findings are highly suggestive of Joubert syndrome and related disorders (JSRD). Our report and the review of the published cases suggest that TCD-OE is not a nosological entity, but may represent the structural manifestation of heterogeneous disorders such as the JSRD spectrum. DTI may be very helpful to differentiate between similar midbrain-hindbrain malformations.
KW - cerebellar malformation
KW - diffusion tensor imaging
KW - magnetic resonance imaging
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U2 - 10.1055/s-0031-1287763
DO - 10.1055/s-0031-1287763
M3 - Review article
C2 - 21932183
AN - SCOPUS:80053005251
SN - 0174-304X
VL - 42
SP - 170
EP - 174
JO - Neuropediatrics
JF - Neuropediatrics
IS - 4
ER -