Diencephalic syndrome of infancy

Emaciation in the setting of normal linear growth and intellectual development, which is usually associated with neoplasms involving the anterior hypothalamus in infancy or early childhood.

Pathophysiology

Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon.

What is the diencephalon?

The diencephalon includes the hypothalamus and the thalamus.

Presentation

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.

Cause

Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma, dysgerminoma, and ganglioma. Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve.

Symptoms

Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormality of the hypothalamus-pituitary axis
• Behavioral abnormality
• Cachexia
• Neoplasm of the nervous system

30%-79% of people have these symptoms

Abnormality of movement

Treatment

Treatment usually involves surgery to remove as much of the tumor as possible, radiation therapy, and chemotherapy.

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.

Alternate names

Diencephalic cachexia; Diencephalic syndrome of childhood; Diencephalic syndrome of emaciation

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