Article published online: 2021-07-31
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Joubert Syndrome
R BAVAHARAN, NS MANI, TMUKUNTHARAJAN, N KARUNAKARAN
Ind J Radiol Imag 2005 [Link]-222
Key words : - Joubert Syndrome, MRI
J
oubert syndrome is a rare autosomal recessive type shaped fourth ventricle(Fig3) ,Bullet shaped third
of congenital cerebellar vermian hypoplasia . It is ventricle(Fig4).
associated with cystic lesions of the abdominal
organs. Here we present a case of Joubert [Link]
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:
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.
Fig2- T2W sagittal shows vermian atrophy with corpus
colossal dysgenesis
Fig1- T1 axial shows horizontally placed superior cerebellar
peduncle with secondary prominence of fourth ventricle.
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) - (Fig1), vermian
atrophy and corpus colossal dysgenesis (Fig2) ,Batwing Fig3- T2W axial shows Bat wing shaped fourth ventricle.
From the Department of Imaging Sciences , Meenakshi Mission Hospital & Research Centre, Madurai, TamilNadu.
Request for Reprints: Dr NS Mani, Department of Imaging Sciences , Meenakshi Mission Hospital & Research Centre,Madurai,
TamilNadu.
Received 1 December 2004; Accepted 15 March 2005
222
222 R Bavaharan et al ����, 15:2, ��� 2005
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
Fig4- T2W axial shows Bullet shaped third ventricle
enlarged fourth ventricle, Enlarged Cysterna Magna and
Tectum may be dysplastic.
In view of her pancreatic cystic disease , laprascopic
cystectomy done .The biopsy report revealed it as solid It is associated with Cystic Renal disease, Retinal
and cytic papillary neoplasm. In the post operative period Dysplasia,and Dysgenesis of Corpus collosum.
she developed shortness of breath for which echo was other causes of vermian dysgenesis include
done whih revealed small Patent Ductus Arteriosus. But • Dandy Walker Syndrome
progressively she improved of her respiratory symptoms • Down Syndrome
and was discharged. • Retrocerebellar cysts
• Chiari malformations
DISCUSSION: • Congenital Oculomotor apraxia Syndrome
• Rhombencephalosynapsia
Cerebellar deformities can be broadly divided into 3 main
groups References
1) Partial Vermian agenesis 1. Neuroradiology - The Requisities, Grossman, Mosby,
2) Subtototal agenesis 2003, p433,434
3) Cystic malformations of Posterior fossa 2. Radiology Review manual, Wolfgang Dahnert, Lippincot,
1999, p247
Joubert syndrome is an autosomal recessive type of 3. Cerebellar Anomalies, Clinival Neuroradiology, Radiology
on CD-ROM, Lippincot-Raven, 2001
cerebellar maldevolpoment (especially vermian
agenesis).Most common in males. May be associated
with DandyWalker malformation , Werding-Hoffman
