J Korean Neurosurg Soc.  2014 Jan;55(1):43-47. 10.3340/jkns.2014.55.1.43.

Spinal Cord Ependymoma Associated with Neurofibromatosis 1 : Case Report and Review of the Literature

• Cheng H
• Shan M
• Feng C
• Wang X

• KMID: 2191040
• DOI: http://doi.org/10.3340/jkns.2014.55.1.43

Abstract

Patients with neurofibromatosis 1 (NF1) are predisposed to develop central nervous system tumors, due to the loss of neurofibromin, an inactivator of proto-oncogene Ras. However, to our knowledge, only three cases of ependymomas with NF1 have been reported in the literature. The authors present a case of NF1 patient with a spinal cord ependymoma. She was referred for about half a year history of increasing numbness that progressed from her fingers to her entire body above the bellybutton. Magnetic resonance imaging revealed a relative-demarcated, heterogeneously enhanced mass lesion accompanied by perifocal edema in C5-7 level, a left-sided T11 spinous process heterogeneously enhanced mass in soft tissue, intervertebral disk hernia in L2-5 level, and widespread punctum enhancing lesion in her scalp and in T11-L5 level. The patient underwent C5-7 laminectomies and total excision of the tumor under operative microscope, and intraoperative ultrasonography and physiological monitoring were used during the surgery. Histopathologically, her tumor was found to be a ependymoma without malignant features (grade II in the World Health Organization classification). Therefore, no adjuvant therapy was applied. Following the operation, the patient showed an uneventful clinical recovery with no evidence of tumor recurrence after one year of follow-up.

Keyword

Autosomal dominant disorder; Ependymoma; Intraoperative ultrasonography; Neurofibromatosis 1; Neurofibromin; Physiological monitoring

MeSH Terms

Central Nervous System Neoplasms
Edema
Ependymoma*
Fingers
Follow-Up Studies
Hernia
Humans
Hypesthesia
Intervertebral Disc
Laminectomy
Magnetic Resonance Imaging
Monitoring, Physiologic
Neurofibromatoses*
Neurofibromatosis 1*
Neurofibromin 1
Proto-Oncogenes
Recurrence
Scalp
Spinal Cord*
Ultrasonography
World Health Organization
Neurofibromin 1

Figure

• 

  Fig. 1 A : Operative scar on her back and café-au-lait spot (arrow). B : Operative scar on her left thigh and widespread café-au-lait spots (arrow). C : Widespread frecklings axillary. D : Cutaneous neurofibromas and plexiform neurofibroma (arrow). E : Patient's pedigree. The circles represent females and squares represent males. Black represents affected individuals. Oblique line represents dead individuals. The patient is signed in arrow, her mother and maternal grandmother have similar manifestations of neurofibromatosis 1.

• 

  Fig. 2 A : Spinal MRI shows a relative-demarcated, heterogeneously enhanced mass lesion accompanied by perifocal edema in C5-7 level (arrow). B : A left-sided T11 spinous process heterogeneously enhanced mass in soft tissue (thick arrow), and intervertebral disk hernia in L2-5 level (thin arrows). C, E, F, and G : Post-gadolinium T1 weighted sagittal imaging revealed widespread punctum enhancing lesion in her scalp and in T11-L5 level. D : Follow-up MRI revealed stable postsurgical changes in the C4-7 level with no evidence of tumor recurrence one year later. H, I, and J : Head MRI suggests no evidences of optic pathway glioma and neurofibromatosis 2.

• 

  Fig. 3 A : A yellowish mass with abundance blood supply in the spinal cord is exposed. B : The spinal cord is slit and the tumor was gross-totally resected safely under an operative microscope.

• 

  Fig. 4 A : In the H&E staining, the cyst wall consists of glial cells characterized by round, irregular nucei and eosinophilic cytoplasm, and perivascular pseudorosettes formation can been noted. B, C and D : The immunohistochemical examination of the cells is positive for glial fibrillary acidic protein (B), epithelial membrane antigen (C), and S-100 protein (D). These findings are consistent with an ependymal cyst diagnosis. E : Biopsy of a scalp neurofibroma, a typical cutaneous neurofibroma without malignant features.

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