Diencephalic Syndrome as Presentation of Giant Childhood Craniopharyngioma: Management Review

Abstract

Diencephalic syndrome (DES) is an extremely uncommon occurrence, and approximately 100 cases have been reported. It presents as a failure to thrive in infants and children but rarely occurs in adult population. The characteristic clinical features of DES include severely emaciated body, normal linear growth and normal or precocious intellectual development, hyperalertness, hyperkinesis, and euphoria usually associated with intracranial sellar-suprasellar mass lesion, usually optico-chiasmatic glioma or hypothalamic mass. DES as a presentation of craniopharyngioma is extremely uncommon but can also occur with brain stem mass. Detailed PubMed and MEDLINE search for craniopharyngioma associated with DES yielded only six cases in children below 6 years of age. Thus, we reviewed a total of seven cases including previously published six cases and added additional our own case. Overall, the mean age at diagnosis was 4.15 years with male:female ratio of 4:3, the mean time interval between symptom of DES appearance and final diagnosis was 6.6 months. The most commonly observed symptom of DES was weight loss (85%). The clinical feature, imaging, and management of such rare syndrome along with pertinent literature are briefly reviewed.

Keywords: Craniopharyngioma; diencephalic syndrome; failure to thrive; management; neuroimaging study.

Figure 1

Clinical photograph showing grossly emaciated body but preserved height

Figure 2

Contrast-enhanced axial section MRI of brain showing heterogeneous multi-compartmental giant mass lesion in sellar, parasellar, and also extending into posterior fossa

Figure 3

MRI of brain, contrast-enhanced, coronal section image showing giant mass lesion with epicenter in sellar with extension into parasellar and posterior fossa region