Presentation
Microcephaly, facial anomalies. The mother gave history of preterm labor
Patient Data
Age: 2 weeks
Gender: Female
From the case:
Joubert syndrome related disorder
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The case shows multiple disorders as follows:
corpus callosum agenesis with interhemispheric cyst
severe hypoplasia of the cerebellar vermis with hypoplastic, dysplastic cerebellar hemisphere as well as thick elongated superior cerebellar peduncles (Molar tooth sign)
retro-cerebellar collection of cerebrospinal fluid
abnormal brainstem
giant hypothalamic hamartoma apperas as a large mass that is isointense to brain parenchyma centered in the prepontine cistern
Case Discussion
Joubert syndrome is a rare syndrome that presents with hypotonia, ataxia, and facial anomalies with cognitive functions are almost impaired in all cases.