Purely intramedullary spinal cord primitive neuroectodermal tumor: case report and review of the literature

Abstract

Introduction. Primitive neuroectodermal tumors (PNETs) are malign neoplasms of the central nervous system which mainly locate in cerebellum (medulloblastoma). Primary intraspinal PNETs are rare. Within this group, we have found ten cases of purely intramedullary PNETs (IPNETs). In this report, we describe a new IPNET case and review the literature about these infrequent intramedullary tumors.Case report. A 17 month-old boy showed progressive decrease of motion in his lower extremities. Spine magnetic resonance imaging revealed an intramedullary expansive lesion from T3 to T10. A near-total removal was performed. The pathological diagnosis was PNET. Subsequent chemotherapy was recommended. Six months after operation, holocord progression has occurred.Conclusion. IPNETs are uncommon tumors affecting children and young adults. They are characterized by recurrence, progression or intracranial dissemination. Outcome is dismal: most patients die within two years in spite of surgical resection followed by radiotherapy and chemotherapy. Caso clínico. Se trata de un niño de 17 meses de edad que ha desarrollado una paraparesia progresiva. La resonancia magnética espinal muestra una lesión expansiva intramedular que se extiende desde T3 hasta T10. Se procedió a una extirpación macroscópica casi completa. El estudio anatomopatológico reveló un PNET. Se recomendó quimioterapia. Seis meses después de la cirugía, ha habido progresión a lo largo de la médula.Conclusión. Los PNETs exclusivamente intramedulares son raras neoplasias que afectan a niños y adultos jóvenes. Se caracterizan por la recurrencia, progresión o diseminación intracraneal. Son procesos de muy mal pronóstico, ya que los pacientes mueren en los primeros dos años a pesar de la resección quirúrgica y posterior radioterapia y quimioterapia.

Intramedullary Primitive Neuroectodermal Tumor Presenting With Rapidly-Progressive Cauda Equina Syndrome -Case Report-

“…The history of clinical presentation was short ranging from 6 days to 8 weeks. 13) Our patient was a 39-year-old male with a lesion at the level of conus medullaris manifesting as rapid neurological deterioration for 2 weeks.…”

“…1,3,8,9,12) Intramedullary PNET is even more rare and has been documented primarily as case presentations and short series. [4][5][6][7]13) Cauda equina syndrome refers to a constellation of symptoms that result from damage to the cauda equina. This syndrome may present as sciatica, low-back pain, saddle analgesia, decreased rectal tone, absent bulbocavernosus, patellar, and Achilles reflexes, bowel and bladder dysfunction, and lower extremity weakness.…”

Central Nervous System Primitive Neuroectodermal Tumor of Spinal Cord Developing 20 Years After Curative Treatment of Pineal Tumor -Case Report-

“…11,13,19) Because of the confusion in classification and scarce clinical data for individual cases, the distinction between CNS PNET and pPNET has not always been made. Recently, attempted division of reported cases found 12 cases of CNS PNET and 17 cases of pPNET.…”

“…13) In addition, reviews of the literature found 7 and 11 cases of intramedullary CNS PNET. 11,19) We re-examined individual clinical data, CD99 expression, and genetic studies for these cases, and recognized 12 cases as definite primary intramedullary CNS PNETs ( Table 1). The present case is the 13th known case and the first to be evaluated by both immunohistochemistry and molecular Neurol Med Chir (Tokyo) 51, August, 2011 CNS PNET of the Spinal Cord analysis.…”

“…Approximately 20 cases of pPNET have been reported and specific chromosomal translocations have been ascribed to genetic mechanisms. Only 12 cases of CNS PNET have been reported 1,2,4,5,7,11,12,13,15,16,18,19) and the genetic pathway is still unclear. A definite distinction between the two is critical for future molecular targeting therapy.…”