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Il Giornale Italiano di Radiologia Medica 2018 Novembre-Dicembre;5(6):738-42

DOI: 10.23736/S2283-8376.18.00137-7


language: Italian

Joubert Syndrome: a case report

Giovanna FAVARO 1, Alessandra BUCCI 2 , Gaetano CANTALUPO 3, Giuseppe K. RICCIARDI 2, Elisa M. CICERI 2

1 Dipartimento di Radiologia, Azienda Ospedaliera Universitaria Integrata (AOUI), Verona, Italia; 2 Dipartimento di Neuroradiologia, Azienda Ospedaliera Universitaria Integrata (AOUI), Verona, Italia; 3 Neuropsichiatria Infantile, Università di Verona, Verona, Italia


Joubert Syndrome (JS) is a rare genetic brain developmental disorder. It was first described in 1968 by Marie Joubert. Prevalence is estimated at approximately 1/100,000. It is a genetically heterogeneous ciliopathy and it can be inherited in an autosomal recessive pattern or in a X-linked recessive pattern. JS is clinically characterized by hypotonia and developmental delays, often associated with variable intellectual disabilities. The first clinical presentation is often irregular breathing, with episodic hyperpnea and/or apnea, and nystagmus during the neonatal period. Additional findings can include cerebellar ataxia and oculomotor apraxia. Distinctive facial features can also occur. Diagnosis is based on the presence of characteristic clinical features and the neuroradiologic finding of “molar tooth sign” (MTS). This sign comprises: dysgenesis of the isthmic portion of the brain stem at the pontomesencephalic junction, with an abnormally deep interpeduncular fossa; prominent, straight, and thickened superior cerebellar peduncles, surrounding an elongated IV ventricle; hypoplasia of the vermis, with a sagittal cleft in the superior vermis. JS is tipically diagnosed in the first months of life with magnetic resonance imaging (MRI), like in our case. Genetic testing is important, and it is appropriate to offer genetic counseling to the parents of an affected child. We report the case of a 14-month-old baby with oculomotor apraxia. MRI showed the molar tooth sign.

KEY WORDS: Joubert syndrome - Molar - Ciliopathies - Malformations of cortical development - Magnetic resonance imaging

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