Diffuse leptomeningeal glioneuronal tumor (DLGNT) mimicking Whipple’s disease: a case report and literature review

Abstract

DLGNT should be included as a differential diagnosis of patients with leptomeningeal-enhanced and high CSF protein level with normal white blood cell count.

Diffuse Leptomeningeal Glioneuronal Tumor in a 4.5-year-old Girl: A Case Report and Review of the Literature

“…[5][6][7][8][9][10][11][12][13] Several cases in adults have been reported. 3,8,12 Most common symptoms include nausea and vomiting, 2-4,12-14 headache, [2][3][4][5][6][7]9,11,12,14 seizures, 11,12,15 limbs weakness, 2,4,7,9,11 loss of vision, 9,11 and altered mental state (confusion). 2,8,9 Our patient presented with headache, vomiting, and right eye convergent strabismus.…”

“…DLGNTs are typically positive for S100, Olig2, GFAP, and synaptophysin expression, 3,4,6,7,9 but immunoreactivity can differ between cases. The tumor is becoming increasingly recognized as having BRAF and KIAA1549 genes fusions, 1p deletions 2,6,9,13 and rarely 1p/19q codeletion 7,11 but a significant part of DLGNTs are negative for these markers. 2,3,6,8,10,12,14,16 In the reported case, the tumor showed BRAF and KIAA1549 fusion but without the most common BRAF gene mutations.…”

“…DLGNT is often diagnosed as Whipple's disease, 6 tuberculous meningitis, 8,17 or leptomeningeal gliomatosis.…”

“…DLGNT is a very rare entity occurring mostly in children and adolescents. [5][6][7][8][9][10][11][12][13] Several cases in adults have been reported. 3,8,12 Most common symptoms include nausea and vomiting, 2-4,12-14 headache, 2-7,9,11,12,14 seizures, 11,12,15 limbs weakness, 2,4,7,9,11 loss of vision, 9,11 and altered mental state (confusion).…”

“…Typically, these lesions are considered progressive, 2,5,14 as they were in our patient. CSF analysis can show an increase in protein level 6,8 but is typically negative malignant cells, and therefore, early biopsy is crucial to reach appropriate diagnosis. 11 Histologically, DLGNT is often composed of oligodendroglial-like or neurocyte-like cells.…”