diencephalic syndrome; Russell's syndrome

Etiology

• diencephalic brain neoplasm
  • may be due to neurofibromatosis type 1

Epidemiology

• rare
• infants & children

Pathology

• may be associated hydrocephalus
• low-grade glioma or astrocytoma in the region of the hypothalamus-optic chiasm (optic glioma)

Clinical manifestations

• failure to thrive typically presents at 7 months
• severe emaciation
• normal or slightly decreased caloric intake
• locomotor hyperactivity
• euphoria
• less commonly skin pallor, vomiting, vision abnormalities, headaches
• not associated with developmental delay

Complications

• may be life-threatening

Management

• treatment of underlying brain neoplasm
  • surgery, radiation, &/or chemotherapy.

More general terms

• disease/disorder primarily affecting brain