Review of Clinical Presentation and Trajectory of Paediatric Patients with a Diagnosis of Primary Brain Tumour in a Paediatric Tertiary Centre
Authors: Abou-Diab J , Gouin S , Bouhout I , Carret AS 
Published: September 2022

Abstract
BACKGROUND: Brain tumours are the second most common group of childhood cancer. Recognition of life-threatening conditions, such as brain tumours, remains a challenge among pediatric patients. Many studies have described the implication of initial presentation, clinical evolution and healthcare system factors in diagnosis delay of brain tumours in children and adolescents. However, few studies have treated these different factors in the same cohort and established their interactions.
OBJECTIVES: To determine the clinical presentation patterns and health care trajectory of children and adolescents with a confirmed diagnosis of primary brain tumours. The secondary objectives were to compare the patterns of presentation between different age groups and different settings of diagnosis.
DESIGN/METHODS: A retrospective chart review in a pediatric university affiliated hospital was conducted. Participants were all patients younger than 18 years of age diagnosed with a brain tumour by neuroimaging between January 2003 and December 2014. Patients with secondary brain tumour and spinal cord tumour were excluded. Data were extracted from medical records and an internal tumour registry of all treated patients at our institution.
RESULTS: From the registry, 288 patients were identified. The mean age at time of diagnosis was 7.44±0.29 years. Boys (59%) and Caucasians (76%) were seen predominantly. Most tumours were infra-tentorial (55%) and had astrocytic origin (29%). The majority (35%) had consulted only once prior to diagnosis, while 14% had consulted at least 4 times prior to diagnosis. The mean time between the onset of symptoms and diagnosis was 147±19 days. The mean time between symptoms onset and first consultation was 84±14 days. The most frequent symptoms and signs at onset and diagnosis were respectively: headache (44% vs 59%, p&lt;0.001), nausea and vomiting (31% vs 58%; p&lt;0.001) and abnormalities of gait (10% vs 32%; p&lt;0.001). 129 patients (45%) were diagnosed in an Emergency Department (ED), while 96 patients (33%) were diagnosed in an outpatient setting. Symptoms and signs that differed significantly for those diagnosed in an ED were: headache (71% vs 42%; p&lt;0.001), nausea and vomiting (73 % vs 32%; p&lt;0.001), lethargy (26% vs 9%; p=0.002), weight loss (15% vs 3%; p=0.004), irritability (9% vs 0%; p=0.003) and endocrine abnormality (2% vs 8%; p=0.02). Clinical presentations of infants up to one year of age (14%) differed from other age groups. They presented mostly with growth abnormality (46%), macrocephaly (40%), irritability (40%), development abnormalities (18%) and sun-setting eyes sign (10%).
CONCLUSION: In this large comprehensive cohort, headache is the most common presenting symptom of brain tumours. The diagnosis is most frequently made in the ED. Different clinical presentations have been identified and vary between different settings of diagnosis and different age groups. The delay between the onset of symptoms and diagnosis is up to five months. Many patients have to consult multiple times different physicians before the diagnosis is made.