Pediatric intramedullary GBM are uncommon clinical entities. The commonly reported locations of GBM are the cervicothoracic segments, with the cervical spine being the most affected region, followed by the thoracic spine . The isolated involvement of the conus medullaris is very infrequent, representing only 3 % of all pediatric cases, whereas holocordal presentations and intracranial dissemination are often described. The tumor typically tends to spread via the subarachnoid space due to the proximity of the neoplastic tissue to the cerebrospinal fluid space. Survival ranges from 4 to 16 months with a median survival of 12 months .
Clinical features depend on the region of the spinal cord involved and the growth rate of the tumor, irrespective of the histological subtype. The most common symptoms in children include pain, motor regression, gait abnormalities, torticollis, and progressive kyphoscoliosis.
Based on imaging, the criteria for the differential diagnosis of these lesions in children have been determined . Our case showed MRI features compatible with a high-grade neoplasm, including hemorrhage involving the lower pole, the so-called “cap sign,” the presence of multiple cysts, and leptomeningeal involvement .
Similar to the treatment strategy for brain lesions, gross total resection of the spinal cord lesion, confirmed by early postoperative MRI, followed by adjuvant treatment consisting of radiotherapy and chemotherapy, has been recommended .
Historically, pediatric GBM has been treated with adjuvant radiotherapy followed by cytotoxic drugs either as single agents or in combination. Unfortunately, none of the chemotherapeutic regimens has been demonstrated to be superior over the others .
Due to the lack of alternative treatments with superior clinical efficacy, radiotherapy in combination with concomitant and adjuvant TMZ is widely used by pediatric neuro-oncologists based on the efficacy of this strategy in adults . This treatment regimen is also used in patients with spinal GBM.
Because of the high propensity of spinal GBM to disseminate, whole spine irradiation has been proposed. However, the role of prophylactic craniospinal irradiation remains unclear . Taking the patient’s age and minimal residual disease into consideration, we decided to perform focal irradiation at the 52-month follow-up visit when there was no evidence of dissemination.
Pediatric GBM usually has a grim prognosis. Survival ranges from 6 to 16 months, with a mean survival of 12 months after the diagnosis . An exceptionally long survival of 144 months has been reported for a patient with spinal GBM .
The extent and location of the lesion as well as the feasibility of a gross total resection, especially in younger patients, are the factors that most affect a patient’s prognosis . Despite the presence of several positive prognostic factors, survival remains poor .
Even after 52 months of follow-up, our patient is not considered to be cured. Intensive rehabilitation aiming at optimal clinical recovery has promoted a good quality of life and the ability to perform daily life activities without support.
The good clinical outcome observed in our case might partially be due to the absence of known negative prognostic molecular markers described in pediatric high-grade gliomas such as TP53 and H3K27 [14, 15]. The identification of new molecular markers helps to define the prognosis of GBM in daily practice .