Diencephalic Syndrome: a Case Report

DIENCEPHALIC SYNDROME

A

CASE REPORT

SAINT LOUIS UNIVERSITY HOSPITAL OF THE SACRED HEART

DEPARTMENT OF PEDIATRICS

by

IVY MARIE M. AUSA, MD

ABSTRACT

A three year-old girl with severe emaciation and signs and symptoms of intracranial hypertension was admitted in our institution due to sudden onset of recurrent seizures. After exhausting other diagnostic investigations, her cranial computerized tomography (CT) scan revealed the presence of a sellar-suprasellar mass and obstructive hydrocephalus. She underwent ventriculoperitoneal shunting and tumor debulking of the sellar-suprasellar mass.

Diencephalic syndrome is a rare disorder resulting in severe emaciation of infants and young children. Symptoms of vomiting, nystagmus, irritability and hyperactivity are some of the presenting symptoms involved in this syndrome. This condition is associated with sellar-suprasellar tumors and its incidence is quite low in all populations. There is no laboratory test or procedure that is diagnostic for this syndrome. Instead it may be considered as a differential diagnosis whenever a young patient has an unexplained failure to thrive. There is no consensus regarding the best treatment for this syndrome but surgery, radiation therapy, chemotherapy or any combination of these three can be beneficial. The survival of patients with Diencephalic Syndrome after diagnosis depends on the nature of the brain tumor, although some researches show that tumors associated with this syndrome tend to be more aggressive in younger children despite low grade histologic findings. Average survival is approximately six months to two years. Although survival for eight to twelve years after diagnosis have also been reported.

INTRODUCTION

Diencephalic syndrome is a rare case of emaciation or failure to thrive in infants and children. In 1951, Russel, described the clinical entity of Diencephalic Syndrome as a profound emaciation in infancy with...