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A Case of Intramedullary Spinal Cord Astrocytoma Associated with Neurofibromatosis Type 1

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A Case of Intramedullary Spinal Cord Astrocytoma Associated with Neurofibromatosis Type 1 KISEP J Korean Neurosurg Soc 36 : 69-71, 2004 Case Report A Case of Intramedullary Spinal Cord Astrocytoma Associated with Neurofibromatosis Type 1 Jae Taek Hong, M.D.,1 Sang Won Lee, M.D.,1 Byung Chul Son, M.D.,1 Moon Chan Kim, M.D.2 Department of Neurosurgery,1 St. Vincent Hospital, The Catholic University of Korea, Suwon, Korea Department of Neurosurgery,2 Kangnam St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea The authors report a symptomatic intramedullary spinal cord astrocytoma in the thoracolumbar area associated with neurofibromatosis type 1 (NF-1). A 38-year-old woman presented with paraparesis. Magnetic resonance imaging revealed an intramedullary lesion within the lower thoracic spinal cord and conus medullaris, which was removed surgically. Pathological investigation showed anaplastic astrocytoma. This case confirms that the diagnosis criteria set by the National Institute of Health Consensus Development Conference can be useful to differentiate ependymoma from astrocytoma when making a preoperative diagnosis of intramedullary spinal cord tumor in patients of NF-1. KEY WORDS : Astrocytoma·Intramedullary cord tumor·Neurofibromatosis. Introduction eurofibromatosis type 1 (NF-1), also known as von N Recklinghausen's disease, is one of the most common autosomal dominant inherited disorders with an incidence of 1 in 3,000 individuals and is characterized by a predisposition to tumors of the nervous system5,6,12,16). Central nervous system lesions associated with NF-1 include optic nerve glioma and low-grade gliomas of the hypothalamus, cerebellum and brain stem6,10). Since the introduction of magnetic resonance(MR) imaging, Fig. 1. Photograph of the patient's back shows multiple subcutaneous incidental lesions with uncertain pathological characteristic nodules (black arrow) and a cafe-au-lait spot (white arrow), which have been a frequent finding in the brain and spinal cord of are typical of NF-1. patients with NF-114). The proposed nature of these lesions ressively for 2 months. Her bowel and bladder function was has included low-grade tumors, heterotopias, foci of abnormal normal. She had no family history of NF. myelination, or harmatoma12). On physical examination the patient exhibited typical There have been only a few reports about the relationship features of NF-1 with multiple subcutaneous nodules and between NF type and the histopathology of intramedullary cafe-au-lait spots (Fig. 1). Motor power of both legs was tumor. In this report we describe an intramedullary astrocy- grade IV. MR image revealed an intramedullary mass in the toma associated with NF-1. thoracolumbar spinal cord and conus medullaris, hyperintense on T2WI (Fig. 2A) and isointense on T1WI, and it showed Case Report heterogeneous enhancement (Fig. 2B). Laminectomy was performed from T10 to L1, exposing the dura in the region of 38-year-old woman presented with paraparesis and the terminal spinal cord and conus. A conservative, subtotal A lower back pain. These symptoms had worsened prog- removal was undertaken and the excised tissue was sent to the Received：March 18, 2004 Accepted：April 20, 2004 laboratory for pathological examination (Fig. 3). Somatosensory Address for reprints：Sang Won Lee M.D., Department of evoked potentials were monitored intraoperatively and showed Neurosurgery, St. Vincent Hospital, The Catholic University of Korea, no changes during the operative procedure. Microscopic exam- 93-6 Ji-dong, Paldal-gu, Suwon 442-723, Korea Tel : 031) 249-7190, Fax : 031)245-5208 ination demonstrated increased cellularity and pleomorphism E-mail : [email protected] of the nucleus. Histopathological diagnosis was an anaplastic VOLUME 36 July, 2004 69 Spinal Cord Astrocytoma A B Fig. 3. Photomicrograph of the tumor shows high cellularity and nuclear pleomophism, consistent with anaplastic astrocytoma (A). (H&E, Original magnification x 400) Strong immunohistochemical positivity is demonstrated for GFAP (B). (Original magnification x 200). have been extremely rare, with only three reports concerning intramedullary spinal cord astrocytoma associated with NF-1 being documented in the literature. Egelhoff et al. reported 1 case of cervical astrocytoma associated with NF-11,2,13) and Lee et al. reported astrocytoma in 3 cases of NF-16). Yagi et A B al. also identified 2 cases with NF-1 among their series of 44 16) Fig. 2. Sagittal T2-weighted magnetic resonance (MR) image shows cases of intramedullary spinal cord tumors . a hyperintense intramedullary cord tumor around the conus (A) with NF describes the most commonly inherited disorders affec- heterogenous enhancement of the mass (B). ting the nervous system. These autosomal dominant, neurocu- astrocytoma (Fig. 3). taneous syndromes are associated with multiple tumors of the The postoperative recovery was uneventful. Motor weakness nervous system, including neurofibromas, schwannomas, was not improved, but back pain was relieved after surgery. meningiomas, and intracranial gliomas10). Spinal cord invol- She received spinal radiation, 16 cycles of 2Gy dosage, with a vement in NF-1 is typically from extramedullary growth of total radiation dose of 32Gy. After radiation therapy, she refused spinal nerve root tumors14). Meanwhile intramedullary spinal further treatment. Six months postoperatively, the patient was cord tumors in NF-1 have been reported as scattered, single ambulatory with the aid of a walker. cases in the literature6,16). In this case and the 6 previously reported cases of intramedullary spinal cord tumor with an Discussion evident pathological diagnosis of NF-1, the tumors were astrocytoma. F is a multisystemic, hereditary disease involving com- In the literature, there was a trend for spinal cord ependy- N ponents of the neuroectoderm, mesoderm, and endoderm. momas to occur in the patients with NF-2 and for spinal cord Accordingly, various manifestations of the disorder can include astrocytomas to occur in the patients with NF-16, 8,16). abnormalities of the skin, nervous system, skeleton, and soft This is in concordance with the finding that the most tissue15). NF has recently been classified into two clinical forms. common intracranial glioma in patients with NF-1 is also an NF type 1 (NF-1), so called peripheral NF, is the more common astrocytoma, the optic nerve glioma6). In addition, chromosomal type, and is characterized by cafe-au-lait spots, neurofibromas, abnormalities at the NF-1 allele have been reported in patients optic gliomas, iris hamartomas, and musculoskeletal abnorm- with astrocytomas who do not have NF-16). Thus, it is reasonable alities11). NF type 2 (NF-2), so called central NF, is characte- that the NF-1 gene may play some role in astrocytoma rized by bilateral schwannomas of the vestibular portion of tumorigenesis, even though this association has not been cranial nerve VIII, while dermal lesions are unusual3). clearly defined, as it has in other nervous system neoplasms NF is associated with multiple types of CNS tumors. How- that are typically related with NF6). We need more data on ever, because of the relative rarity of intramedullary spinal intramedullary spinal tumors in the NF-1 patient population, cord astrocytomas, which represent only 6% to 8% of spinal across all ages. This case report may be an impetus for such cord tumors7,9), the association between NF and intramedull- data collection. ary spinal cord tumors has not been firmly established16). Acknowledgement Since the National Institute of Health Consensus Develo- This preparation of this work was financially supported by a clinical pment Conference set the diagnostic criteria in 19884,6), reports research fund from the Catholic Medical Center and St. Vincent Hospital, on NF associated intramedullary spinal cord astrocytoma Korea for the year 2003. 70 J Korean Neurosurg Soc 36 JT Hong, et al. References Sci 38 : 187-191, 1994 9. Nishio S, Morioka T, Fujii K, Inamura T, Fukui M : Spinal cord 1. Egelhoff JC, Ball WS, Towbin RB, Seigel RS, Eckel CG : Dural gliomas : management and outcome with reference to adjuvant therapy. ectasia as a cause of widening of the internal auditory canals in J Clin Neurosci 7 : 20-23, 2000 neurofibromatosis. Pediatr Radiol 17 : 7-9, 1987 10. Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, 2. Egelhoff JC, Bates DJ, Ross JS, Rothner AD, Cohen BH : Spinal MacCollin M, Parry DM : Intramedullary and spinal canal tumors MR findings in neurofibromatosis types 1 and 2. AJNR Am J in patients with neurofibromatosis 2 : MR imaging findings and Neuroradiol 13 : 1071-1077, 1992 correlation with genotype. Radiology 218 : 434-442, 2001 3. Hwang SK, Paek SH, Kim DG, Chung YS, Jung HW : Neurofi- 11. Roos KL, Muckway M : Neurofibromatosis. Dermatol Clin 13 : bromatosis Type 2 : Long-Term Treatment Outcome. J Korean 105-111, 1995 Neurosurg Soc 31 : 113-124, 2002 12. Sawin PD, Theodore N, Rekate HL : Spinal cord ganglioglioma in a 4. Khong PL, Goh WH, Wong VC, Fung CW, Ooi GC : MR imaging child with neurofibromatosis type 2. Case report and literature of spinal tumors in children with neurofibromatosis 1. AJR Am J review. J Neurosurg 90 : 231-233, 1999 Roentgenol 180 : 413-417, 2003 13. Schorry EK, Crawford AH, Egelhoff JC, Lovell AM, Saal HM : Thoracic 5. Kluwe L, Tatagiba M, Funsterer C, Mautner VF : NF1 mutations tumors in children with neurofibromatosis-1. Am J Med Genet 74 : and clinical spectrum in patients with spinal neurofibromas. J Med 533-537, 1997 Genet 40 : 368-371, 2003 14. Thakkar SD, Feigen U, Mautner VF : Spinal tumours in neurofi- 6. Lee M, Rezai AR, Freed D, Epstein FJ : Intramedullary spinal cord bromatosis type 1 : an MRI study of frequency, multiplicity and tumors in neurofibromatosis. Neurosurgery 38 : 32-37, 1996 variety. Neuroradiology 41 : 625-629, 1999 7. Minehan KJ, Shaw EG, Scheithauer BW, Davis DL, Onofrio BM : 15. Vitale MG, Guha A, Skaggs DL : Orthopaedic manifestations of Spinal cord astrocytoma : pathological and treatment considerations. neurofibromatosis in children: an update. Clin Orthop 107-118, 2002 J Neurosurg 83 : 590-595, 1995 16.
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