Endocrine Abstracts

Background: Craniopharyngiomas (CP) are rare malformational tumors. Clinical presentation and outcome of patients with congenital CP (cCP) are not clear and refer mainly to few case reports in the literature. The aim of this study was to analyze clinical presentation and outcome in patients with cCP.

Clinical cases: Seven hundred and nine patients diagnosed with adamantinomatous CP were recruited 1999-2021 in HIT-ENDO, KRANIOPHARYNGEOM 2000 / 2007 / Registry 2019 and prospectively observed. In 3 cases, cCP was diagnosed prenatally and in one case at the 2nd day of life. Pre- and perinatal diagnostic findings, postnatal evaluation, therapeutic interventions and outcome in these 4 cases of cCP were analyzed. When compared to cases of cCP reported in the literature, more recent cases like our reported cCP have an overall better prognosis with regard to survival and sequelae. Two of our 4 cCP suffered from hemiparesis and one patient presented with mild motor retardation. In contrast to historical reports (lethal rate of >50%), all patients in our report recruited after 2000 survived. Prenatal routine ultrasound examination was the usual diagnostic procedure leading to diagnosis of cCP. Tumor resection was performed during early postnatal period (range: 11 - 51 days of age). Complete resection of the mostly large sized tumors could be achieved in two of four patients with cCP.

Conclusions: Based on improvements of diagnostic and therapeutical methods and techniques, earlier prenatal diagnosis of cCP should lead to intrauterine transfer of cCP patients to a specialized center for postnatal treatment of newborns with sellar masses by a multidisciplinary team to secure an improved prognosis of these patients.