Ravine syndrome

Discussion:

This is a case of Ravine syndrome, proven with genetic testing.

Ravine syndrome is a rare neurogenetic disorder found in the south part of Reunion Island, in the Indian ocean. Its inheritance is autosomal recessive.

The clinical symptoms feature infantile anorexia with recurrent vomiting, brainstem-linked disorders, growth retardation and progressive encephalopathy. 

MRI usually shows bulb/medulla oblongata atrophy, demyelination of the cerebellar white matter, pons atrophy, supratentorial periventricular white matter hyperintensities and basal ganglia anomalies.

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