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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.
General
disease/disorder primarily affecting brain
References
- Wikipedia: Diencephalic syndrome
https://en.wikipedia.org/wiki/Diencephalic_syndrome
- National Organization for Rare Diseases (NORD)
Diencephalic Syndrome
https://rarediseases.org/rare-diseases/diencephalic-syndrome/