Ravine syndrome

Orpha code: 99852OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
Progressive encephalopathy with severe infantile anorexia
Postępująca encefalopatia z ciężką anoreksją niemowlęcą
Zespół wyspy Reunion, anoreksji, niepohamowanych wymiotów i objawów neurologicznych
Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
ORPHA code
99852
OMIM code
-
ICD10 code
E75.2
ICD11 code
-

No additional description.

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