Living with Ravine syndrome
An extremely rare genetic condition in infants with repeated vomiting, poor weight gain, and worsening brain function.
Understanding Ravine syndrome
It involves loss of appetite with repeated vomiting, sudden brainstem problems, severe poor weight gain, and a progressive brain disease (encephalopathy). MRI shows changes in the brainstem, cerebellum, and other brain areas.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of appetite and repeated vomiting
- Severe poor weight gain (failure to thrive)
- Progressive brain disease (encephalopathy)
- Poor balance and coordination (ataxia)
- Stiff muscles (spasticity)
- Eye movement differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC7A2-IT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Leukodystrophy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the SLC7A2-IT1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: progressive encephalopathy with severe infantile anorexia; reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ravine syndrome.
Explore research for Ravine syndrome
Explore actively recruiting Ravine syndrome studies with HealthSpark.
Find actively recruiting studies for Ravine syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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