Neuropsychological Deterioration Predicts Tumor Progression in a Young Boy With Bithalamic Glioma

Abstract

A description is given of the clinical, neuropsychological, and neuroimaging evolution of a 12-year-old boy (CG) who presented with bilateral thalamic astrocytoma (World Health Organization Grade 2). CG underwent an extensive neuropsychological assessment immediately after biopsy prior to any medical therapies and was followed up for 3 years until death. Neuropsychological functioning was thoroughly investigated by means of a detailed battery that included intelligence and cognitive functions. Evolution was characterized by cognitive deterioration that preceded neuroimaging signs of tumor progression. Starting from normal cognitive organization, the child exhibited visuospatial memory deficits and, afterward, diffuse cognitive impairment. The role of neuropsychological assessment in detecting early disease progression is discussed, mainly for rare pathologies whose evolution may be extremely variable.

Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition

“…A unique and poorly characterized subtype of diffuse glioma involves the bilateral thalami at time of initial presentation, principally affecting young children. These bithalamic diffuse gliomas are not amenable to surgical resection, and have a uniformly poor outcome despite radiation and conventional cytotoxic chemotherapy [4,6,11,13,15,20,22,25,28,30,31,35,38,45]. Though diffuse midline gliomas with unilateral thalamic involvement frequently harbor histone H3 K27M mutation, bithalamic gliomas in children often lack this defining mutation [6].…”