Síndrome de Joubert: un reto para el diagnóstico prenatal

Introduction

Joubert syndrome and related disorders constitute an autosomal recessive hereditary disease, whose incidence is estimated at one case per 80,000 to 100,000 live births. It represents a developmental delay secondary to multiple congenital abnormalities, predominantly cerebellar and brainstem.

Clinical findings

A 37-year-old pregnant woman with an intermediate risk result in the first trimester chromosome screening. Finding in the second trimester obstetric ultrasound, absence of inferior cerebellar vermis, dysplasia of the superior vermis, vertical disposition of both cerebellar hemispheres and horizontal superior cerebellar peduncles. In the fetal resonance the presence of the «Molar tooth sign» is confirmed.

Main diagnoses

Cystic anomalies of the posterior fossa, specifically the Dandy-Walker malformation and Joubert syndrome.

Therapeutic interventions and results

Genetic study after amniocentesis, QF-PCR, Arrays CGH, without pathological findings and normal fetal karyotype of 46 XX. Confirmation was achieved by massive sequencing of 13 genes related to Joubert syndrome, evidencing the existence of 2 heterozygous pathogenic variants of the CPLANE1 gene, each one from a parent.

Conclusion

Joubert Syndrome represents a challenge within prenatal diagnosis, due to its heterogeneous clinical, phenotypic and genetic presentation. This work presents the diagnostic complexity and contributes to the literature another case that allows to improve its future diagnosis.