Diencephalic syndrome

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Other Names:

Diencephalic cachexia; Diencephalic syndrome of childhood; Diencephalic syndrome of emaciation; Diencephalic cachexia; Diencephalic syndrome of childhood; Diencephalic syndrome of emaciation; Russell diencephalic cachexia; Russell syndrome See More

Categories:

Endocrine Diseases

Summary Summary

Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. The diencephalon includes the hypothalamus and the thalamus.^[1] This condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive), progressive thinness and weakness (emaciation), and hyperactivity and restlessness (hyperkinesia). Other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus.^[1]^[2]^[3] Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma, dysgerminoma, and ganglioma.^[1]^[3] Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve.^[3] Treatment usually involves surgery to remove as much of the tumor as possible, radiation therapy, and chemotherapy.^[2]

Last updated: 4/27/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of the hypothalamus-pituitary axis		0000864
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Cachexia	Wasting syndrome	0004326
Neoplasm of the nervous system	Tumor of the nervous system	0004375
30%-79% of people have these symptoms
Abnormality of movement	Movement disorder Unusual movement [ more ]	0100022
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Long penis	Enlarged penis	0000040
Macrotia	Large ears	0000400
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
5%-29% of people have these symptoms
Large hands	large hand	0001176
Optic atrophy		0000648

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Last updated: 1/1/2021

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Prognosis Prognosis

The prognosis for individuals with diencephalic syndrome differs depending on the type of tumor associated and grade of the tumor. If left untreated, most with this condition will pass away within 12 months. With treatment, the long-term survival is greatly improved; however, even with treatment, the tumor may continue to grow slowly and there may be lasting symptoms related to issues with the hypothalamus and vision.^[3]^[4]^[5]

Last updated: 4/27/2017

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes gastrointestinal disorders that lead to severe weight loss such celiac disease. Visit the Orphanet disease page for more information.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

A Kids’ Brain Tumor Cure Foundation (PLGA Foundation)
98 Random Farms Drive
Chappaqua, NY 10514
E-mail: contact@akidsbraintumorcure.org
Website: http://akidsbraintumorcure.org
American Brain Tumor Association
8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL 60631
Toll-free: 1-800-886-2282
Telephone: +1-773-577-8750
Fax: +1-773-577-8738
E-mail: info@abta.org
Website: https://www.abta.org/
Children's Brain Tumor Foundation
274 Madison Avenue, Suite 1004
New York, NY 10016
Toll-free: 1-866-228-4673
E-mail: info@cbtf.org
Website: http://www.cbtf.org
Pediatric Brain Foundation
2144 E. Republic Rd.
Building B, Suite 202
Springfield, MO 65804
Telephone: 417-887-4242
E-mail: info@pediatricbrainfoundation.org
Website: http://www.pediatricbrainfoundation.org/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

A Kids’ Brain Tumor Cure Foundation provides information and resources for different conditions associated with brain tumors, including Diencephalic syndrome
The National Cancer Institute provides information on the treatment of Childhood Astrocytomas
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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