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NEURORADIOLOGY Table of Contents   
Year : 2005  |  Volume : 15  |  Issue : 2  |  Page : 221-222
Joubert syndrome


Department of Imaging Sciences, Meenakshi Mission Hospital and Research Centre, Madurai, Tamilnadu, India

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Keywords: Joubert Syndrome, MRI

How to cite this article:
Bavaharan R, Mani N S, Mukuntharajan T, Karunakaran N. Joubert syndrome. Indian J Radiol Imaging 2005;15:221-2

How to cite this URL:
Bavaharan R, Mani N S, Mukuntharajan T, Karunakaran N. Joubert syndrome. Indian J Radiol Imaging [serial online] 2005 [cited 2019 Aug 22];15:221-2. Available from: http://www.ijri.org/text.asp?2005/15/2/221/28807
Joubert syndrome is a rare autosomal recessive type of congenital cerebellar vermian hypoplasia . It is associated with cystic lesions of the abdominal organs. Here we present a case of Joubert syndrome.This case was interesting as it was associated with papillary cystadenoma of the pancreas , paraovarian cyst and Patent Ductus Atreriosus which are rare association with this entity.


   Case report Top


A 14 year old mentally retarded girl presented with history of non specific abdominal pain. On examination she had ataxic gait with horizontal,coarse nystagmus.

Ultrasound examination of abdomen and pelvis revealed cystic lesion in head of pancreas, Bilateral polycystic kidney with right para-ovarian mass.

MRI Brain revealed elongated,horizontally placed superior cerebellar peduncle(Molar Tooth sign) - [Figure - 1], vermian atrophy and corpus colossal dysgenesis [Figure - 2] ,Batwing shaped fourth ventricle [Figure - 3] ,Bullet shaped third ventricle [Figure - 4].

In view of her pancreatic cystic disease , laprascopic cystectomy done .The biopsy report revealed it as solid and cytic papillary neoplasm. In the post operative period she developed shortness of breath for which echo was done whih revealed small Patent Ductus Arteriosus. But progressively she improved of her respiratory symptoms and was discharged.


   Discussion Top


Cerebellar deformities can be broadly divided into 3 main groups

1) Partial Vermian agenesis

2) Subtototal agenesis

3) Cystic malformations of Posterior fossa

Joubert syndrome is an autosomal recessive type of cerebellar maldevolpoment (especially vermian agenesis).Most common in males. May be associated with DandyWalker malformation , Werding-Hoffman disease,occipital encephaloceles.

Clinical features include neonatal hyperpnea or apnea, poor visual devolopment with oculomotor disturbances, colobomas, ataxia, mental retardation.

Pathological features include nearly total aplasia of cerebellar vermis, dysplasia and heteropia of cerebellar nuclei, pyramidal decussations, inferior olivary nucleus, solitary fascicles and dorsal column nuclei may be absent.

MRI of brain shows Cerebellar hemispheres are seperated in midline cerebellar vermian agenesis (neuronal migration anomaly),Horizontaly placed superior cerebellar peduncles ( "Molar tooth sign"), Superior cerebellar peduncle surrounded by CSF, Bat-wing appearance of enlarged fourth ventricle, Enlarged Cysterna Magna and Tectum may be dysplastic.

It is associated with Cystic Renal disease, Retinal Dysplasia,and Dysgenesis of Corpus collosum.

other causes of vermian dysgenesis include

Dandy Walker Syndrome

Down Syndrome

Retrocerebellar cysts

 Chiari malformation More Detailss

Congenital Oculomotor apraxia Syndrome

Rhombencephalosynapsia[3]

 
   References Top

1.Neuroradiology - The Requisities, Grossman, Mosby, 2003, p433,434  Back to cited text no. 1    
2.Radiology Review manual, Wolfgang Dahnert, Lippincot, 1999, p247  Back to cited text no. 2    
3.Cerebellar Anomalies, Clinival Neuroradiology, Radiology on CD-ROM, Lippincot-Raven, 2001  Back to cited text no. 3    

Top
Correspondence Address:
N S Mani
Department of Imaging Sciences , Meenakshi Mission Hospital & Research Centre,Madurai,TamilNadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.28807

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]



 

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