Viviane Robert-Boire1, Lorena Rosca1, Yvan Samson2, Luis H Ospina3, Sébastien Perreault4. 1. Department of Pediatrics, Division of Child Neurology, CHU Sainte-Justine, Montreal, Quebec, Canada. 2. Department of Pediatrics, Division of Hemato-Oncology, CHU Sainte-Justine, Montreal, Quebec, Canada. 3. Department of Ophthalmology, CHU Sainte-Justine, Montreal, Quebec, Canada. 4. Department of Pediatrics, Division of Child Neurology, CHU Sainte-Justine, Montreal, Quebec, Canada. Electronic address: s.perreault@umontreal.ca.
Abstract
BACKGROUND: Optic pathway gliomas (OPGs) occur sporadically or in patients with neurofibromatosis type 1 (NF1). The purpose of this study was to evaluate the clinical presentation at diagnosis and at progression of patients with OPGs. METHODS: We conducted a chart review of patients with OPGs diagnosed in a single center over a period of 15 years. Demographic data including age, sex, NF1 status, clinical presentation, and outcome were collected. RESULTS: Of the 40 patients who were identified, 23 had sporadic tumors (57.5%) and 17 had NF1-related tumors (42.5%). Among the children with NF1, there was a significant overrepresentation of girls (82.3%) (P = 0.02), while among the children without NF1, there were slightly more boys (56.5%) than girls (43.5%). The presence of nystagmus was strongly associated with sporadic optic pathway gliomas. Poor visual outcome was related to tumor affecting both optic pathways, hydrocephalus at diagnosis, and optic nerve atrophy. Of the 40 patients, five died of OPG complications (12.5%) and all had sporadic tumors. CONCLUSIONS: Our cohort is one of the largest with OPGs and a detailed description of the clinical presentation both at diagnosis and at progression. We observed a significant difference between sporadic and NF1 optic pathway gliomas in terms of demographics, clinical presentation, and outcome.
BACKGROUND: Optic pathway gliomas (OPGs) occur sporadically or in patients with neurofibromatosis type 1 (NF1). The purpose of this study was to evaluate the clinical presentation at diagnosis and at progression of patients with OPGs. METHODS: We conducted a chart review of patients with OPGs diagnosed in a single center over a period of 15 years. Demographic data including age, sex, NF1 status, clinical presentation, and outcome were collected. RESULTS: Of the 40 patients who were identified, 23 had sporadic tumors (57.5%) and 17 had NF1-related tumors (42.5%). Among the children with NF1, there was a significant overrepresentation of girls (82.3%) (P = 0.02), while among the children without NF1, there were slightly more boys (56.5%) than girls (43.5%). The presence of nystagmus was strongly associated with sporadic optic pathway gliomas. Poor visual outcome was related to tumor affecting both optic pathways, hydrocephalus at diagnosis, and optic nerve atrophy. Of the 40 patients, five died of OPG complications (12.5%) and all had sporadic tumors. CONCLUSIONS: Our cohort is one of the largest with OPGs and a detailed description of the clinical presentation both at diagnosis and at progression. We observed a significant difference between sporadic and NF1 optic pathway gliomas in terms of demographics, clinical presentation, and outcome.
Authors: Ciaran Scott Hill; Mehdi Khan; Kim Phipps; Katherine Green; Darren Hargrave; Kristian Aquilina Journal: Childs Nerv Syst Date: 2021-02-03 Impact factor: 1.475
Authors: Ciaran Scott Hill; Sara Castro Devesa; William Ince; Anouk Borg; Kristian Aquilina Journal: Childs Nerv Syst Date: 2020-06-18 Impact factor: 1.475