AbstractJoubert syndrome (JS) is a rare autosomal recessive disorder associated with a characteristic hindbrain malformation on neuroimaging termed the "molar tooth sign". We report a case of a 4-year-old female who was admitted with hypotonia, ataxia, and intellectual disability. The pathognomonic molar tooth sign was accompanied by cerebellar vermis hypoplasia, superior cerebellar peduncles, elongated and horizontally oriented, and a bat-wing appearance of the fourth ventricle on brain magnetic resonance imaging (MRI). Abdominal ultrasonography revealed hepatic fibrosis with increased liver stiffness (9 kPa on elastography) and chronic kidney disease as evidenced by increased renal cortical echogenicity with loss of corticomedullary differentiation. This case illustrates the multi-organ involvement in JS with the need to assess the systemic involvement beyond the neuroimaging findings. Early identification of neurological and extra-neurological manifestations is important for appropriate multidisciplinary management and genetic counseling. The coexistence of marked hepatorenal involvement in our patient emphasises the need for close monitoring of liver and renal function in children with JS.
