Purpose
The aim of our study was to extend the previously reported phenotypic-neuroradiologic correlation by studying three patients with JS.
To evaluate the white matter tracts by using diffusion tensor imaging (DTI)and demonstrate abnormal white matter tracts a step beyond well described "Molar Tooth Sign".
These findings were compared with normal age matched control subjects.
INTRODUCTION
Joubert syndrome (JS) is a rare disorder with an incidence of 1/80,000 to 1/100,000 live births.1,2 It is characterized by complex malformation of the midbrain-hindbrain,
with the so-called molar tooth...
Methods and Materials
Three patients with clinical diagnosis of Joubert syndrome were recruited into the study.
Their age was 4 year old male,
4 month old male and a 4 month old female.
The clinical findings are presented in Table 1.
Two healthy,
aged and sex matched volunteers with no medical history were used as control subjects.
Informed consent was received from all participants’ parents and all procedures were performed with the approval of the institutional review board for clinical studies.
MRI was performed on a 1.5 T...
Results
In all three JS patients,
conventional MR imaging showed the classic molar tooth sign with a deep interpeduncular fossa,
thickened superior cerebellar peduncles,
a widened fourth ventricle and hypoplasia of the cerebellar vermis (Fig 1and Fig 2).All patients demonstrated widening of the dilatation fourth ventricle with bat’s-wing shape on axial view and increased convexity of the roof of the fourth ventricle on sagittal view (Fig3 and Fig 4).All patients showed an elongated mesencephalon,
a narrowed isthmus,
and a normal quadrigeminal plate and pons.
No patients...
Conclusion
Conclusion
“Molar Tooth Sign” is a characteristic appearance of midbrain in Joubert Syndrome
In JS and JSRD,
the fibers of the superior cerebellar peduncles do not decussate in the mesencephalon with absent "Red Dot Sign".
The dentate nuclei in JS and JSRD are more lateralized.
This displacement is as a result of the bat-wing shaped fourth ventricle.
The superior cerebellar peduncles in JS and JSRD are thickened and horizontally oriented.
DTI adds a different dimension in understanding JS and is certainly a step beyond “Molar...
Personal Information
Author for correspondence
Assoc.Prof.Sandeep Bhuta MBBS,
DNB,
FRANZCR
Associate Professor & Neuroradiologist
Griffith University,
School of Medicine,
Dept.of Medical Imaging
108 Nerang Street,
Gold Coast Hospital
Gold Coast,
QLD,
4215 Australia
Email:
[email protected]
Fax: +61755197964
Co-authors
Dr Charlie Chia-Tsong Hsu
Faculty of Health Sciences and Medicine,
Bond University
University Drive,
QLD 4229
AUSTRALIA
Dr Gigi Nga Chi Kwan
Faculty of Health Sciences and Medicine,
Bond University
University Drive,
QLD 4229
AUSTRALIA
References
REFERENCES
1. Kroes HY,
van Zon PH,
van de Putte DF,
Nelen MR,
Nievelstein RJ,
Wittebol-Post D,
van NO,
Mancini GM,
van der Knaap MS,
Kwee ML,
Maas SM,
Cobben JM,
De Nef JE,
Lindhout D,
Sinke RJ: DNA analysis of AHI1,
NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Eur J Med Genet 2008,
51:24-34.
2. Parisi MA,
Doherty D,
Chance PF,
Glass IA: Joubert syndrome (and related disorders) (OMIM 213300).
Eur J Hum Genet 2007,
15:511-521.
3. Maria B,
Quisling...