Introduction: Central nervous system atypical teratoid rhabdoid tumors (ATRTs) are aggressive lesions usually presenting during the first 3 years of life. These tumors have a dismal prognosis with most patients dying within 1 year from presentation. Primary spinal location in infants is very rare.
Case presentation: We report a case of a 4-month-old boy who presented with a history of hypotonia, poor head control, and gradually reduced level of consciousness, over the past week. Computed tomography (CT) showed acute hydrocephalus with no underlying intracranial pathology. A ventriculoperitoneal shunt was inserted acutely. Postoperatively, ventilator weaning was unsuccessful. MRI of the brain and whole spine revealed an intraspinal extradural contrast-enhancing heterogenous mass in the subaxial cervical spine extending to the thoracic cavity. A biopsy was taken through a transthoracic approach, and histopathology confirmed the diagnosis of ATRT. Several cycles of radiation therapy and chemotherapy were given but the tumor progressed both locally and intracranially. Eventually, pupils became dilated and fixed. Brain CT scan showed widespread ischemic lesions and an extensive intracranial tumor extension with massive bleeding. The child eventually died 110 days after admission.
Conclusions: In infants presenting with acute hydrocephalus where an obvious intracranial cause is not detected, the whole neuraxis should be screened. However, despite aggressive measures and advances in multimodality treatment, prognosis of ATRT remains dismal.
Keywords: Atypical rhabdoid teratoid tumor; Hydrocephalus; Intracranial extension; Outcome; Spine; Treatment.
© 2020 S. Karger AG, Basel.