Tecto-cerebellar dysraphism with occipital encephalocele: Not a distinct disorder, but part of the joubert syndrome spectrum?

A. Poretti, S. Singhi, T. A G M Huisman, A. Meoded, G. Jallo, Arzu Ozturk, E. Boltshauser, A. Tekes

Research output: Contribution to journalReview article

12 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)170-174
Number of pages5
JournalNeuropediatrics
Volume42
Issue number4
DOIs
StatePublished - 2011
Externally publishedYes

Fingerprint

Encephalocele
Diffusion Tensor Imaging
Malformations of Cortical Development
Rhombencephalon
Anisotropy
Mesencephalon
Neuroimaging
Color
Magnetic Resonance Imaging
Joubert syndrome 1

Keywords

  • cerebellar malformation
  • diffusion tensor imaging
  • magnetic resonance imaging

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Tecto-cerebellar dysraphism with occipital encephalocele : Not a distinct disorder, but part of the joubert syndrome spectrum? / Poretti, A.; Singhi, S.; Huisman, T. A G M; Meoded, A.; Jallo, G.; Ozturk, Arzu; Boltshauser, E.; Tekes, A.

In: Neuropediatrics, Vol. 42, No. 4, 2011, p. 170-174.

Research output: Contribution to journalReview article

Poretti, A, Singhi, S, Huisman, TAGM, Meoded, A, Jallo, G, Ozturk, A, Boltshauser, E & Tekes, A 2011, 'Tecto-cerebellar dysraphism with occipital encephalocele: Not a distinct disorder, but part of the joubert syndrome spectrum?', Neuropediatrics, vol. 42, no. 4, pp. 170-174. https://doi.org/10.1055/s-0031-1287763
Poretti, A. ; Singhi, S. ; Huisman, T. A G M ; Meoded, A. ; Jallo, G. ; Ozturk, Arzu ; Boltshauser, E. ; Tekes, A. / Tecto-cerebellar dysraphism with occipital encephalocele : Not a distinct disorder, but part of the joubert syndrome spectrum?. In: Neuropediatrics. 2011 ; Vol. 42, No. 4. pp. 170-174.
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