Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study

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, wit...

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Bibliographic Details
Published in:Diagnostics (Basel) 2022-03, Vol.12 (3), p.664
Main Authors: De Martino, Lucia, Picariello, Stefania, Triarico, Silvia, Improda, Nicola, Spennato, Pietro, Capozza, Michele Antonio, Grandone, Anna, Santoro, Claudia, Cioffi, Daniela, Attinà, Giorgio, Cinalli, Giuseppe, Ruggiero, Antonio, Quaglietta, Lucia
Format: Article
Language:English
Subjects:
Age
Body mass index
Brain cancer
Chemotherapy
diencephalic syndrome
Failure to thrive
Histology
Hydrocephalus
Hypothalamus
long-term outcomes
Magnetic resonance imaging
NF1
optic pathway glioma
Patients
pediatric
Pediatrics
Radiation therapy
Tumors
Visual impairment
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Summary: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); = 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.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics12030664