Presentation
Term baby diagnosed antenatally with schizencephaly, hydrocephalus and multiple cysts in kidneys.
Patient Data
The axial MR head shows a large posterior fossa cyst with a wide communication between the 4th ventricle and the posterior subarachnoid enlarged posterior fossa. Dysgenesis of the cerebellar vermis and superior cerebellar peduncles showing as the molar tooth sign, is present. Furthermore, a wide CSF cleft communicating the medial aspect of the left lateral ventricle with the superomedial subarachnoid space, in keeping with open-lip schizencephaly, is noted.
Case Discussion
This baby was born at 38+6 weeks gestation to healthy, non-consanguineous parents. Antenatal ultrasounds showed the presence of schizencephaly, hydrocephalus and multiple cysts in both kidneys. After being admitted to NPICU with respiratory distress, it was noted that the patient was exhibiting a pattern of tachypnea followed by prolonged and profound apneas. Head circumference was in the 98th centile while birth weight was in the 9th centile. Ultrasound brain showed extensive schizencephaly with dilatation of the lateral and 4th ventricles. These findings were confirmed on MRI. Exome sequencing showed a homozygous pathogenic variant in the TMRM237 gene consistent with Joubert Syndrome type 14.
Joubert syndrome is a autosomal recessive genetic disorder, first described in 1969. It is characterized by hypoplastic cerebellar vermis, deep interpeduncular fossa and abnormal superior cerebellar peduncles, which all together give the classical molar tooth sign on axial MRI images 1,2. Joubert syndrome is associated with a broad spectrum of signs and symptoms, namely kidney and liver disease, hyperpnea, episodes of apnea, ataxia, hypotonia as well as abnormal eye and tongue movements 3. This patient had bilateral cystic dysplastic kidneys and bilateral optic disc colobomas.
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