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Joubert syndrome related disorder

Case contributed by Heba Abdelmonem
Diagnosis probable

Presentation

Microcephaly, facial anomalies. The mother gave history of preterm labor

Patient Data

Age: 2 weeks
Gender: Female

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.

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