Diencephalic Syndrome in Adolescents: A Case Series

Area of Science:

• Pediatric Endocrinology
• Neuro-oncology
• Rare Diseases

Background:

• Diencephalic syndrome (DES) is characterized by failure to thrive and hypothalamic dysfunction, typically affecting infants.
• Tumors in the hypothalamic-optic chiasmatic region are the common cause of DES due to compression of the hypothalamus.
• This case report details two teenage patients diagnosed with DES, a significant deviation from the typical age demographic.

Purpose of the Study:

• To report a rare presentation of diencephalic syndrome (DES) in adolescent patients.
• To highlight the diagnostic challenges and management of DES in an atypical demographic.
• To emphasize the importance of considering DES in pediatric patients with unexplained weight loss and neurological symptoms.

Main Methods:

• Retrospective chart review of two pediatric patients diagnosed with diencephalic syndrome.
• Analysis of clinical presentation, diagnostic findings, and treatment outcomes.
• Correlation of tumor location in the hypothalamic-optic chiasmatic region with clinical symptoms and diagnosis.

Main Results:

• Both patients presented with unintentional weight loss and neurological symptoms despite normal caloric intake.
• Neoplastic lesions in the hypothalamic-optic chiasmatic region were identified in both patients, consistent with DES.
• Tumor management resulted in significant weight gain and improvement in daily life activities for both patients.

Conclusions:

• Diencephalic syndrome can occur in teenage populations, representing a rare diagnosis in an unexpected demographic.
• Delayed diagnosis in atypical presentations of DES can impact patient outcomes.
• Increased awareness of DES in diverse age groups is crucial for timely and effective patient management.