A characteristic image in Joubert syndrome: molar tooth sign
Mouna Sghir, Wassia Kesomtini
The Pan African Medical Journal. 2015;21:69. doi:10.11604/pamj.2015.21.69.7068

Create an account  |  Sign in
Case studies in Public health Supplement 2 Supplement
"Better health through knowledge sharing and information dissemination "

Images in medicine

A characteristic image in Joubert syndrome: molar tooth sign

Cite this: The Pan African Medical Journal. 2015;21:69. doi:10.11604/pamj.2015.21.69.7068

Received: 15/05/2015 - Accepted: 22/05/2015 - Published: 28/05/2015

Key words: Joubert syndrome, molar tooth, aplasia

© Mouna Sghir et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Available online at: http://www.panafrican-med-journal.com/content/article/21/69/full

Corresponding author: Mouna Sghir, Unit of Physical Medicine and Rehabilitation, University Hospital Tahar Sfar, Mahdia, Tunisia (mouna_sghir@yahoo.fr)


A characteristic image in Joubert syndrome: molar tooth sign

 

Mouna Sghir1,&, Wassia Kesomtini1

 

1Unit of Physical Medicine and Rehabilitation, University Hospital Tahar Sfar, Mahdia, Tunisia

 

 

&Corresponding author
Mouna Sghir, Unit of Physical Medicine and Rehabilitation, University Hospital Tahar Sfar, Mahdia, Tunisia

 

 

Image in medicine

Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities. It is currently included in the malformation spectrum of cerebello-oculo-renal syndromes (CORS). An image known as a "molar tooth sign" is typically observed in cerebral magnetic resonance imaging (MRI) and is characterised by a deep posterior interpeduncular fossa, thickened and elongated superior cerebellar peduncles, as well as hypoplasia or agenesis of the cerebellar vermis. We report the case of a 4-year-old male, referred to our rehabilitation unity with a history of hypotonia and delayed psychomotor development. Physical examination found macrocephaly, frontal bossing and triangular upper lip and arched palate. Ocular examination revealed a bilateral divergent squint and inability to track objects with eyes. All aspects of his development were delayed. He had a generalized hypotonia but deep tendon reflexes were normal. There were important negative signs including: Regular breathing pattern, no organomegaly and no polydactyly or syndactyly. With these findings, a brain MRI was requested, which showed the classic "molar tooth sign" which led to the clinical diagnosis of Joubert syndrome. In complementary studies, the audiogram revealed a bilateral sensorineural hearing loss, the ophthalmology assessment and laboratory studies were normal. We have prescribed a stander and hearing aid. A rehabilitation program was started consisting of: joint mobilization, muscle strengthening, occupational and speech therapy.

 

 

Figure 1: cerebral MRI showing agenesis of cerebellar vermis causing the “molar tooth sign”

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


The Pan African Medical Journal articles are archived on Pubmed Central. Access PAMJ archives on PMC here

Volume 28 (September - December 2017)

Article tools

This article authors

On Pubmed
On Google Scholar

Navigate this article

Rate this article

Altmetric

PAMJ is a member of the Committee on Publication Ethics
Next abstract

PAMJ is published in collaboration with the African Field Epidemiology Network (AFENET)
Currently tracked by: DOAJ, AIM, Google Scholar, AJOL, EBSCO, Scopus, Embase, IC, HINARI, Global Health, PubMed Central, PubMed/Medline, Ulrichsweb, More to come . Member of COPE.

ISSN: 1937-8688. © 2017 - Pan African Medical Journal. All rights reserved