Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging

Abstract

Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements. A pathognomonic midbrain-hindbrain malformation seen on cranial magnetic resonance imaging (MRI), which consists of hypoplasia of the midline cerebellar vermis that resembles the cross-section through a molar tooth, has been described previously. The molar tooth sign is defined by a peculiar appearance resembling a molar tooth secondary to an abnormally deep interpeduncular fossa and enlarged superior cerebellar peduncles on axial images at the pontomesencephalic level. The term Joubert Syndrome and Related Disorders (JSRD) has recently been adopted to describe all disorders presenting the "molar tooth sign" (MTS) on brain imaging. JSRD is characterized by lack of decussation of the superior cerebellar peduncles, central pontine tracts and corticospinal tracts suggesting defective axon guidance. Prenatal sonographic findings in fetuses with JSRD are relatively nonspecific and include increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly and polydactyly. We report a case of JSRD detected prenatally at 23 weeks of gestation. The fetus in the present case had a normal karyotype. Sonographic features of the fetus included polydactyly, partial vermian hypoplasia, dilated 4(th) ventricle and mild ventriculomegaly which were also confirmed by prenatal MRI. MTS was demonstrated in a postnatal MRI after pregnancy termination.

Keywords: Joubert syndrome; cerebellar vermian agenenesis; polydactyly; prenatal diagnosis; ultrasonography.

Figure 1

Prenatal sonographic view of postaxial polydactyly (right) and cerebellar vermian hypoplasia (left)

Figure 2

Axial (left) and sagittal (right) prenatal MR images demonstrating hypoplastic cerebellar vermis and ventriculomegaly

Figure 3

Polydactyly in both hands demonstrated in the photograph of fetus following abortion (left). Axial postnatal MR image demonstrating the “ molar tooth appearance” (right)