Ravine syndrome

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Ravine syndrome

Synonyms: Progressive encephalopathy with severe infantile anorexia | Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Ravine syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (Ravine region) characterized by infantile anorexia with irrepressible and repeated vomiting acute brainstem dysfunction severe failure to thrive and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Ravine syndrome?

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