Tectocerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum

Aims: Tectocerebellar dysraphia with occipital encephalocele (TCDOE) describes vermian hypogenesis with tectal malformation and occipital encephalocele. Based on conventional MRI and diffusion tensor imaging (DTI) findings, we recently suggested that TCDOE may be part of the Joubert syndrome and related disorders (JSRD) spectrum. We report on clinical, neuroimaging (conventional and DTI), and genetic findings in four children with TCDOE.