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