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Diencephalic Syndrome: Clinical Features, Pathophysiology, and Long-Term Outcomes.

Antonio Ruggiero1,2, Palma Maurizi1,2, Alberto Romano1

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Summary

Diencephalic syndrome (DS) is a rare infant disorder causing failure to thrive. Early diagnosis and chemotherapy for associated gliomas improve survival but long-term effects persist.

Keywords:
cachexiadiencephalic syndromefailure to thrivehypothalamic gliomahypothalamic obesityoptic pathway glioma

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Area of Science:

  • Pediatric Endocrinology
  • Pediatric Oncology
  • Neuro-oncology

Background:

  • Diencephalic syndrome (DS) is a rare pediatric disorder characterized by failure to thrive despite adequate caloric intake.
  • It predominantly affects infants under 12 months and is diagnostically challenging.
  • Russell first described this condition, often linked to hypothalamic-chiasmatic gliomas.

Purpose of the Study:

  • To comprehensively review the clinical presentation, pathophysiology, diagnosis, and outcomes of Diencephalic syndrome.
  • To highlight the importance of early recognition and multidisciplinary management.

Main Methods:

  • Comprehensive literature review.
  • Examination of clinical presentation, pathophysiology, associated pathology, diagnostic approaches, and long-term outcomes.

Main Results:

  • DS presents in infancy with cachexia, preserved height, hyperactivity, and visual pathway involvement.
  • Low-grade hypothalamic-chiasmatic gliomas, especially pilocytic astrocytomas, are the main cause.
  • Survival exceeds 90% at five years, but significant long-term morbidities like visual impairment and endocrine deficiencies are common.

Conclusions:

  • Early recognition of Diencephalic syndrome is crucial to prevent irreversible complications, particularly visual loss.
  • Chemotherapy is the preferred first-line treatment for underlying gliomas, improving survival and reducing radiation toxicity.
  • Survivors require lifelong monitoring and intervention for sequelae such as hypothalamic obesity.