Living with Diencephalic syndrome
A condition caused by a brain tumor near the hypothalamus that causes poor weight gain and restlessness in infants and young children.
Understanding Diencephalic syndrome
It is usually found in infants and young children. It can cause failure to gain weight and grow normally, progressive thinness and weakness, and restlessness. The tumor is most commonly an astrocytoma, but other tumor types may be involved. Symptoms come from abnormal functioning of the hypothalamus and optic nerve.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain and low body weight
- Restlessness and hyperactivity
- Involuntary eye movements (nystagmus)
- Vision problems
- Vomiting
- Excessive sweating
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 hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Brain Tumor 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
It is caused by a tumor in the diencephalon, most commonly an astrocytoma. Other tumors such as ependymoma, dysgerminoma, and ganglioma may also be involved.
Also known as: diencephalic cachexia; diencephalic syndrome of childhood; diencephalic syndrome of emaciation; diencephalic syndrome of infancy; russell diencephalic cachexia; russell syndrome
Patient organizations
- Children's Brain Tumor FoundationDiencephalic syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Diencephalic syndrome.
Explore research for Diencephalic syndrome
Explore actively recruiting Diencephalic syndrome studies with HealthSpark.
Find actively recruiting studies for Diencephalic syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Diencephalic syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Diencephalic syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Diencephalic syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.