ESPE Abstracts (2019) 92 P2-232

Childhood Craniopharyngioma: Clinical Picture at Diagnosis in an Italian Multicentre Study

Rachele Menardi1, Daniela Driul2, Francesca Franco2, Federico Baronio3, Gabriella Pozzobon4, Dario Gallo4, Armando Grossi5, Danilo Fintini5, Maria Parpagnoli6, Beatrice Nardini6, Patrizia Matarazzo7, Anastasia Ibba8, Patrizia Bruzzi9, Malgorzata Wasniewska10, Mariacarolina Salerno11, Jacopo Fantini12, Stefano Zucchini3

1DAME, University of Udine, Udine, Italy. 2ASUIUD, Department of Pediatrics, Udine, Italy. 3Endo Unit Dept of Woman Child Health and Urologic Diseases AOU S.Orsola H, Bologna, Italy. 4Dept of Pediatrics, San Raffaele Scientific Institute, Milan, Italy. 5Endo Unit Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. 6Auxend Ped Ginecology, AOU Meyer, Florence, Italy. 7SSD Endocrinology-O.I.R.M.-Città della Salute, Turin, Italy. 8Microcitemico H, Cagliari, Italy. 9UO Pediatria, Modena and Reggio Emilia University, Modena, Italy. 10Dept of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy. 11DAI materno infantile AOU Federico II, Naples, Italy. 12University of Bologna, Bologna, Italy

Diagnosis of craniopharyngiomas in childhood is often delayed due to nonspecific symptoms. In Italy all children are followed-up by paediatricians of the NHS and paediatric endocrinologists are present throughout the country. This would theoretically lead to an early diagnosis. We aimed to examine the clinical picture at diagnosis and duration of history before diagnosis in 117 patients (pts) followed-up at Endocrinology Centres belonging to the I.S.P.E.D..

Methods: we retrospectively evaluated 117 pts from 14 centres, diagnosed after 01/01/2000. Auxological data, clinical presentation, duration of symptoms, tumor location (intra/suprasellar) and 3rd ventricle involvement were analyzed.

Results: Mean age at diagnosis was 8.3 yrs (0.1-18yrs, one case diagnosed prenatally) and 41% of pts were younger than 7 yrs. Median duration of symptoms was 10.2±12.4 mo. (range 0-60 mo.), and was positively correlated with age (r=0.21, p 0.02), in particular pts younger than 7 yrs had a shorter duration of symptoms (6.2 mo.± 0.9 vs 12.8 mo.± 1.8, P < 0.03). The most common symptom at diagnosis was headache (57%) (alone in 9.4%, associated with vomiting in 11%, visual impairment in 33% (alone in 13%, with other symptoms in 20%) followed by growth impairment in 25% (alone in 12%, associated with other symptoms in 13%). In the 14 pts > 13 yrs of age 14% had delayed puberty. Pts with symptoms related to increased intracranial pressure showed a shorter clinical history (6.1 mo.±1.2). Taken alone, headache and visual loss carried to a delayed diagnosis (12.9 mo.±4,4). Endocrine deficits were present at diagnosis in 60.2% of pts, the most frequent being GHD (64,8%), followed by TSHD 37% and ACTHD 5.5%. Patients with endocrine deficiencies had a tendentially longer duration of symptoms (11.9 mo.±1,7 vs 8.8 mo.±1.8; p ns). In 91 pts (79%) the lesion was suprasellar, in 15 pts (13.1 %) intrasellar and in 8 pts (7%) intra/suprasellar. Tumor size, location (intra/suprasellar) and 3rd ventricle involvement were not related to duration of symptoms. The suprasellar location was positively correlated with BMI-SDS (P=0.03).

Conclusions: Also in Italy the diagnosis of craniopharyngioma is often delayed, especially in older children. The tumor extension with hypothalamic involvement correlated with elevated BMI at diagnosis. Headache and vomiting were the symptoms leading to a prompt diagnosis in younger children, whereas puberty delay was frequent at puberty. Headache with visual deficits and growth impairment, should be considered first of all by general paediatricians as alarming symptoms.