Neuropediatrics 2011; 42(04): 170-174
DOI: 10.1055/s-0031-1287763
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Tecto-cerebellar Dysraphism with Occipital Encephalocele: Not a Distinct Disorder, but Part of the Joubert Syndrome Spectrum?

A. Poretti
1  Division of Pediatric Radiology, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
2  Division of Pediatric Neurology, University Children’s Hospital, Zurich, Switzerland
,
S. Singhi
1  Division of Pediatric Radiology, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
,
T.A.G M. Huisman
1  Division of Pediatric Radiology, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
,
A. Meoded
1  Division of Pediatric Radiology, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
,
G. Jallo
3  Department of Pediatric Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
,
A. Ozturk
1  Division of Pediatric Radiology, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
,
E. Boltshauser
2  Division of Pediatric Neurology, University Children’s Hospital, Zurich, Switzerland
,
A. Tekes
1  Division of Pediatric Radiology, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
› Author Affiliations
Further Information

Publication History

received 25 May 2011

accepted 08 August 2011

Publication Date:
19 September 2011 (online)

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.