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Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study
Lucia De Martino1, Stefania Picariello1,2, Silvia Triarico3
1Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, via M. Fiore n° 6, 80129 Naples, Italy.
Insights
Diencephalic syndrome (DS) with optic pathway gliomas (OPGs) in children leads to poor progression-free survival and lasting visual, neurological, and endocrine issues, despite good overall survival.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Rare Diseases
Background:
- Diencephalic syndrome (DS) is a rare pediatric condition often linked to optic pathway gliomas (OPGs).
- Delayed diagnosis of slow-growing OPGs can negatively impact long-term outcomes in children with DS.
- Neurofibromatosis type 1 (NF1) is a common comorbidity associated with OPGs in DS.
Purpose of the Study:
- To analyze mortality and long-term sequelae in a multicenter case series of children with DS and OPGs.
- To provide insights into the clinical course and outcomes of pediatric patients with DS and OPGs.
Main Methods:
- Retrospective analysis of nine pediatric patients diagnosed with Diencephalic Syndrome and Optic Pathway Glioma.
- Data collection included patient demographics, tumor characteristics (including NF1 association), treatment modalities (chemotherapy, surgery), and long-term outcomes.
- Statistical comparison of age at diagnosis between NF1-related and sporadic OPG cases.
Main Results:
- All nine patients experienced tumor progression within 5.67 years, necessitating multiple treatment lines.
- No mortality was observed, but all patients developed long-term sequelae, including visual, pituitary, and neurological dysfunction.
- Patients with NF1-related OPGs were significantly older at diagnosis compared to sporadic cases (p=0.015).
Conclusions:
- Pediatric patients with DS and OPGs have poor progression-free survival despite good overall survival.
- These patients invariably suffer from significant visual, neurological, and endocrine sequelae.
- Future trials should prioritize functional outcomes and quality-of-life measures to identify high-risk patients and personalize treatment.
Abstract:
Diencephalic syndrome (DS) is a rare pediatric condition associated with optic pathway gliomas (OPGs). Since they are slow-growing tumors, their diagnosis might be delayed, with consequences on long-term outcomes. We present a multicenter case series of nine children with DS associated with OPG, with the aim of providing relevant details about mortality and long-term sequelae. We retrospectively identified nine children (6 M) with DS (median age 14 months, range 3-26 months). Four patients had NF1-related OPGs. Children with NF1 were significantly older than sporadic cases (median (range) age in months: 21.2 (14-26) versus 10 (3-17); p = 0.015). Seven tumors were histologically confirmed as low-grade astrocytomas. All patients received upfront chemotherapy and nutritional support. Although no patient died, all of them experienced tumor progression within 5.67 years since diagnosis and were treated with several lines of chemotherapy and/or surgery. Long-term sequelae included visual, pituitary and neurological dysfunction. Despite an excellent overall survival, PFS rates are poor in OPGs with DS. These patients invariably present visual, neurological or endocrine sequelae. Therefore, functional outcomes and quality-of-life measures should be considered in prospective trials involving patients with OPGs, aiming to identify "high-risk" patients and to better individualize treatment.
