Joubert syndrome with the decaying molar tooth sign: report of 2 cases

Excerpt

Joubert syndrome (JS) is an autosomal-recessive ciliopathy, clinically characterized by hypotonia, ataxia, oculomotor apraxia, developmental delay and irregular breathing, first described in 1969 [1]. A midbrain-hindbrain malformation, with cerebellar vermis hypo/dysplasia, elongated, thickened and horizontalized superior cerebellar peduncles, associated with abnormally deep interpeduncular fossa, configuring the molar tooth sign, is essential for its diagnosis [2, 3]. The decayed molar tooth sign is a rarely described feature of this syndrome, characterized by additional asymmetrical cerebral peduncles [4]. In this article, we describe two cases of JS with the decaying molar tooth sign. …