Primary intramedullary spinal cord germinoma

Case report

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Primary intramedullary spinal cord germinoma (PISCG) is an exceedingly rare diagnosis, with fewer than 30 cases reported in the literature. It is even less common in the pediatric population. Usually, initial imaging at patient presentation reveals a mass. The authors describe the unique case of a child whose initial imaging showed only focal spinal cord atrophy, which was the earliest sign of a slowly growing intramedullary lesion that was eventually proven via biopsy to represent a PISCG. The authors outline this child's diagnostically challenging presentation, review the events leading up to a diagnosis, briefly discuss PISCG, and summarize their recommendations for other physicians who may encounter a similar case. They assert that PISCG should be considered as a rare entity in the differential diagnosis of progressive spinal cord dysfunction even in the absence of an MRI abnormality of an intrinsic spinal cord mass, especially if there is unexplained focal atrophy of the cord.

Abbreviations used in this paper:AFP = alpha-fetoprotein; β-HCG = beta–human chorionic gonadotropin; PISCG = primary intramedullary spinal cord germinoma.

Article Information

Address correspondence to: Megha Madhukar, M.D., Department of Radiology, Penn State Milton S. Hershey Medical Center, H066, 500 University Drive, P.O. Box 850, Hershey, Pennsylvania 17033. email: mmadhukar@hmc.psu.edu.

Please include this information when citing this paper: published online February 22, 2013; DOI: 10.3171/2013.1.PEDS12402.

© AANS, except where prohibited by US copyright law.

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Figures

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    Sagittal unenhanced T1-weighted (a) and T2-weighted (b) MR images showing normal morphology and signal intensity of the spinal cord. Enhanced T1-weighted MR image (c) revealing no abnormal enhancement.

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    Sagittal unenhanced T1-weighted (a) and T2-weighted (b) images obtained 8 months after initial imaging, showing focal atrophy (arrows) of the spinal cord at T-5. Signal intensity of the spinal cord is normal. Enhanced T1-weighted MR image (c) revealing no abnormal enhancement. A CT myelogram (d) obtained 1 week later, demonstrating focal spinal cord atrophy (arrow) at the T-5 level. Axial T2-weighted MR images obtained at the level of T-2 (e), T-5 (f), and T-7 (g), demonstrating smaller-volume spinal cord at the level of T-5 measuring 6 × 8, 6 × 4, and 6 × 8 mm, respectively. No abnormal signal appears within the cord. Axial CT myelograms obtained at the level of T-2 (h), T-5 (i), and T-7 (j), demonstrating smaller-volume spinal cord at the level of T-5 measuring 6 × 8, 4 × 6, and 6 × 8 mm, respectively. No abnormal lesion appears within the cord.

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    Sagittal unenhanced T1-weighted (a) and T2-weighted (b) MR images obtained 20 months after the onset of symptoms, showing an expansile mass (arrows) in the upper thoracic spinal cord at the T-6 level along with focal atrophy of the spinal cord at T-5. Enhanced T1-weighted MR image (c) revealing mildly increased enhancement of the mass (arrow).

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    Photomicrographs demonstrating results of intraoperative cytology (squash preparation). a: The lesion consists of loosely cohesive germinoma cells, each containing a large nucleus and single prominent nucleolus (arrows). The small dark nuclei correspond to reactive lymphocytes. b: Large germinoma cells with prominent nucleoli. Scattered lymphocytes are seen. c: The germinoma cells show strong membranous staining for CD117. d: Strong nuclear staining for OCT4. H & E (panels a and b), original magnification × 500.

References

1

Aoyama THida KIshii NSeki TIkeda JIwasaki Y: Intramedullary spinal cord germinoma—2 case reports. Surg Neurol 67:1771832007

2

Hattab EMTu PHWilson JDCheng L: OCT4 immunohistochemistry is superior to placental alkaline phosphatase (PLAP) in the diagnosis of central nervous system germinoma. Am J Surg Pathol 29:3683712005

3

Kamoshima YSawamura Y: Update on current standard treatments in central nervous system germ cell tumors. Curr Opin Neurol 23:5715752010

4

Kinoshita YAkatsuka KOhtake MKamitani HWatanabe T: Primary intramedullary spinal cord germinoma. Neurol Med Chir (Tokyo) 50:5925942010

5

Lee JLee BLYoo KHSung KWKoo HHLee SJ: Atypical basal ganglia germinoma presenting as cerebral hemiatrophy: diagnosis and follow-up with 11C-methionine positron emission tomography. Childs Nerv Syst 25:29372009

6

Nakamura HTakeshima HMakino KKuratsu J: C-kit expression in germinoma: an immunohistochemistry-based study. J Neurooncol 75:1631672005

7

Nakata YYagishita AArai N: Two patients with intraspinal germinoma associated with Klinefelter syndrome: case report and review of the literature. AJNR Am J Neuroradiol 27:120412102006

8

Okamoto KIto JIshikawa KMorii KYamada MTakahashi N: Atrophy of the basal ganglia as the initial diagnostic sign of germinoma in the basal ganglia. Neuroradiology 44:3893942002

9

Petit-Lacour MCLasjaunias PIffenecker CBenoudiba FHadj Rabia MHurth M: Visibility of the central canal on MRI. Neuroradiology 42:7567612000

10

Rosenblum MKNakazato YMatsutani MCNS germ cell tumours. Louis DNOhgaki HWiestler OD: WHO Classification of Tumours of the Central Nervous System ed 4LyonIARC Press2007. 198204

11

Rushing EJSandberg GDJudkins ARVezina GKadom NMyseros JS: Germinoma: unusual imaging and pathological characteristics. Report of two cases. J Neurosurg 104:2 Suppl1431482006

12

Yamagata TTakami TTsuyuguchi NGoto TWakasa KOhata K: Primary intramedullary spinal cord germinoma: diagnostic challenge and treatment strategy. Neurol Med Chir (Tokyo) 49:1281332009

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