Pan African Medical Journal

The AJOL site is currently undergoing a major upgrade, and there will temporarily be some restrictions to the available functionality.
-- Users will not be able to register or log in during this period.
-- Full text (PDF) downloads of Open Access journal articles will be available as always.
-- Full text (PDF) downloads of subscription based journal articles will NOT be available
We apologise for any inconvenience caused. Please check back soon, as we will revert to usual policy as soon as possible.

A characteristic image in Joubert syndrome: molar tooth sign

Mouna Sghir, Wassia Kesomtini


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.

Pan African Medical Journal 2015; 21

AJOL African Journals Online