Primary diffuse leptomeningeal gliomatosis in a 2-year-old girl

Primary diffuse leptomeningeal gliomatosis is a rare tumor disease affecting the leptomeninx of the CNS. It is thought to originate from subarachnoidal glial cell nests. The symptoms are often rather unspecific. Surgery is not an option and despite the use of chemotherapy and radiotherapy patients rarely survive for more than 12 months.

We present a case of PDLG in a 2-year-old girl, the youngest patient reported on so far. She presented with increasing somnolence, intermittent strabism, and vomiting. Magnetic resonance imaging of the cranium showed enlarged ventricles and contrast enhancement of the basal leptomeninx. Cerebrospinal fluid diagnostic studies showed a mild pleocytosis and elevated protein levels but no tumor cells or evidence of infection. A ventriculoperitoneal shunt was placed and a biopsy of the leptomeninx was taken in the right Sylvian fissure. The histopathology findings suggested a nonspecific meningeal inflammation. Because the girl developed spinal symptoms with paresthesia and hyperalgesia, a spinal MRI was performed which showed a similar contrast enhancement of the spinal leptomeninx. A spinal biopsy was taken and subsequently a paucicellular astrocytic tumor was diagnosed corresponding to a WHO I diffuse leptomeningeal gliomatosis. Chemotherapy with vincristine, carboplatin, and etoposide was initiated (Protocol SIOP-LGG 2004) but was stopped by the parents when the child was in partial remission after 50 weeks because of a neurologic deterioration. The girl has so far survived for more than 29 months.

Primary diffuse leptomeningeal gliomatosis must be included in the differential diagnosis of diffuse leptomeningeal contrast enhancement in young children. There are promising treatment options that need to be carefully evaluated.