Congenital solitary infantile myofibromatosis involving the spinal cord

Case report

Eun Ji Kim B.S. 1 , Kyu-Chang Wang M.D., Ph.D. 1 , Ji Yeoun Lee M.D. 1 , Ji Hoon Phi M.D. 1 , Sung-Hye Park M.D., Ph.D. 2 , Jung-Eun Cheon M.D., Ph.D. 3 , Young Eun Jang B.S. 4 and Seung-Ki Kim M.D., Ph.D. 1
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  • 1 Divisions of Pediatric Neurosurgery and
  • 3 Pediatric Radiology
  • 2 Departments of Pathology and
  • 4 Anesthesiology and Pain Medicine, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
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Infantile myofibromatosis, a rare mesenchymal disorder that develops in early childhood, is classified by the number of lesions that occur: solitary or multicentric. Involvement of the CNS is unusual in either type. Infantile myofibromatosis in the spine is exceptional, and most published cases represent a secondary invasion. Here, the authors report on an 8-month-old girl presenting with weakness below the ankle and an intraspinal mass extending from T-6 to the conus. The patient underwent only partial surgical removal of the lesion, and the pathology was confirmed as infantile myofibromatosis. After the operation, weakness in the lower extremities gradually improved; however, she could not walk at the time of the final follow-up. On follow-up MRI performed 19 months after the operation, the residual lesion remained unchanged with decreased enhancement.

Abbreviations used in this paper:ETV6 = E26 transformation-specific family variant 6; GFAP = glial fibrillary acidic protein; MRC = Medical Research Council.

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Contributor Notes

Address correspondence to: Seung-Ki Kim, M.D., Ph.D., Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea. email: nsthomas@snu.ac.kr.

Please include this information when citing this paper: published online October 19, 2012; DOI: 10.3171/2012.9.PEDS12245.

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