Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome

Case report

K. H. Carlos Chung M.B.B.S. 1 , Amanda Charlton M.B.Ch.B., F.R.C.P.A. 2 , Susan Arbuckle M.B.B.S., F.R.C.P.A. 2 , Raymond Chaseling M.B.B.S., F.R.A.C.S. 1 , and Brian K. Owler M.B.B.S., Ph.D., F.R.A.C.S. 1 , 3
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  • 1 T. Y. Nelson Department of Neurology and Neurosurgery, and
  • 2 Department of Pathology, The Children's Hospital at Westmead; and
  • 3 Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, University of Sydney, New South Wales, Australia
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Desmoid-type fibromatosis, aggressive fibromatosis, or desmoid tumor is an uncommon benign but locally aggressive fibroblastic lesion. Although intraabdominal desmoid-type fibromatoses are well described in association with adenomatous polyposis syndrome, their occurrence along the neuraxis is extremely rare. The authors report the case of a 14-year-old boy with metachronous intracranial and spinal desmoid-type fibromatoses with preceding medulloblastoma. He was ultimately diagnosed with adenomatous polyposis syndrome. This is the first reported case of spinal desmoid-type fibromatosis in association with adenomatous polyposis syndrome. The identification of an underlying genetic instability allows for screening to detect lesions and institute measures to avoid preventable mortality from nonneurological tumors.

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Contributor Notes

Address correspondence to: K. H. Carlos Chung, M.B.B.S., T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia. email: cchung@med.usyd.edu.au.
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