Suspicious ultrasound markers of joubert syndrome can lead to early prenatal diagnosis

Abstract

Joubert syndrome is a rare autosomal recessive inherited disease associated with many signs and symptoms. Joubert syndrome (JS) was first discovered by Marie Joubert in 1969. Joubert’s syndrome presents as low muscle tone (hypotonia), have difficulty coordinating movements (ataxia), have episodes of fast or slow breathing and abnormal eye movement (ocular motor apraxia). Developmental delay and intellectual disability generally accompany. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. The main aim should be to diagnose these cases antenatally. Number of ultrasound features have been described which are indicator of possibility of Joubert’s syndrome. The confirmatory diagnosis then can be done by MRI. We describe a case of suspicious JS prenatally who had previous baby diagnosed as JS after termination at 20 weeks. We also discuss the antenatal diagnostic management of pregnancies who have a previous history or at high risk of Joubert’s syndrome.