Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report

Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse view of the head magnetic resonance imaging scan. Major clinical features of Joubert syndrome are typically present in early infancy, with most children showing delays in gross motor milestones. When associated with other posterior fossa congenital malformations, it is categorized as Joubert-Plus syndrome. The co-occurrence of both disease entities in one patient has been reported only in a few case reports. In addition, the cystic dilatation of the posterior fossa in Dandy-Walker malformation can mask recognition of the molar tooth sign unless there is a high index of suspicion. We hereby present our experience with diagnosing a combined Joubert syndrome and Dandy-Walker malformation in a 3-year-old girl using magnetic resonance imaging and CT scan after she presented with generalized floppiness since birth.