Diencephalic syndrome in a pediatric patient with a suprasellar lesion: case report and review of literature

Abstract

Summary

Diencephalic syndrome (DES) is an exceedingly rare condition with about 100 cases reported in literature. It presents as failure to thrive (FTT) in pediatric patients associated with central nervous neoplastic lesions in the suprasellar region. Its characteristic signs and symptoms are related to hypothalamic dysfunction, viz, emaciated body, normal linear growth, normal or precocious intellect, hyperalertness, hyperkinesia and euphoria. Such non-specific presentation usually delays diagnosis of the brain lesion. Herein, we present the case of a 3- year-old girl with diencephalic syndrome who presented to our neurosurgical unit. She had been earlier managed for malnutrition and presumed Pulmonary Tuberculosis without much improvement. Further management by the pediatric endocrinologist without change in condition prompted brain imaging. Brain MRI showed a large, avidly enhancing hyper-intense suprasellar lesion. Right pterional craniotomy with subtotal resection was done. Histopathology confirmed Hypothalamic Pilocytic Astrocytoma (WHO Grade 1) and the patient was referred to pediatric oncology for further management.