Diencepephalic syndrome before diagnosis of childhood craniopharyngioma – Results of German multicenter studies on 485 long-term survivors after childhood craniopharyngioma

Abstract

Background: Childhood craniopharyngiomas (CP) are rare intracranial embryogenic malformations of the sellar region arising from remnants of Rathke's pouch. Hypothalamic involvement of craniopharyngioma (HI) resulting in pathological patterns of eating behaviour and obesity are known to have major impact on prognosis and quality of life in surviving patients. HI of sellar masses is also associated with disturbances of satiety regulation leading to a failure to thrive, weight loss and even cachexia known as diencephalic syndrome (DS). The rate of DS and the outcome of CP patients with DS is unknown. Methods: 485 CP patients have been recruited in the German multicenter studies HIT-ENDO and KRANIOPHARYNGEOM 2000/2007. 21 CP patients (4.3%) presented with a BMISDS < -2 SDS at the time of diagnosis. In 4 of 21 cases low BMI could be explained by prematurity or congenital heart failure. 11 patients presented with DS due to proven hypothalamic involvement (HI). 3 patients presented without HI and in 3 patients HI was not evaluable. We compared weight development since birth at standardized time points (based on the German health survey “Vorsorgeuntersuchungen”) in cohorts of CP patients presenting DS, normal weight or obesity (BMISDS >3SDS) at time of diagnosis. Results: Weight development was disturbed in DS patients already in early childhood. Crossing of the weight percentile occurred in most cases during the first or second year of life. In contrast, the development of hypothalamic obesity is related closely to time of CP diagnosis. Conclusion: DS is a rare congenital clinical manifestation of CP with a high risk for delayed diagnosis and treatment.