Joubert syndrome

Case contributed by Dr Hala Maher

Presentation

Admitted to NICU with an abnormal antenatal ultrasound.

Patient Data

Age: Neonate
Gender: Female
Ultrasound

Antenatal

Antenatal fetal U/S;35 weeks gestation show:

Posterior fossa CSF cystic space communicating with the 4th ventricle with aplastic vermis

Also, the abdomen showing grossly enlarged both kidneys with echogenic parenchyma and bilateral minimal hydronephrosis.

Ultrasound

Four day post-natal

Transcranial ultrasound showing posterior fossa CSF space with 4th ventricle communication along with aplastic vermis. Differential diagnosis of Dandy-Walker malformation for MRI

U/S abdomen also revealed enlarged both kidneys with increased parenchymal echogenicity and loss of corticomedullary differentiation along with few cystic changes near the pelvis and tiny few parenchymal cysts the largest not exceed 8 mm denoting renal cystic disease.

MRI

18 days post natal

Typical features of  Joubert syndrome.Axial T2 and FLAIR sequences showing tooth sign of the molar pons and batwing configuration of the 4th ventricle.

Coronal T2 and sagittal FLAIR sequences showing aplastic cerebellar vermis.

Case Discussion

A 30-year-old female presented to the outpatient clinic for an antenatal check-up at 35 weeks gestation and a history of previous siblings of congenital anomalies (4 siblings). The patient underwent an elective cesarean section.

Postnatal transcranial and U/S abdominal confirmed the findings of the antenatal scan and recommend brain MRI. MRI was done 18 days postnatal and confirmed Joubert syndrome findings.

Joubert syndrome is inheritance usually an autosomal recessive disorder, It affects the brain and may affect other parts of the body like the kidneys and eyes. 

It is characterized by cerebellar vermis and brainstem anomalies seen in axial and coronal images with an associated narrowing of the midbrain tegmentum and thickening of the superior cerebellar peduncles resulting in the molar tooth sign with other renal anomalies that defined as Joubert syndrome type B.

Renal involvement has been described in 30% of patients with Joubert syndrome in the form of cystic dysplasia and referred to as Dekaban-Arima syndrome.

PlayAdd to Share

Case information

rID: 82753
Published: 12th Oct 2020
Last edited: 12th Oct 2020
Inclusion in quiz mode: Included
Institution: private hospital

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.