Congenital giant plexiform neurofibroma with occipital calvarial dysplasia in association with meningoencephalocele in neurofibromatosis Type 1 and segmental neurofibromatosis

Report of 2 cases

Ravi Dadlani D.N.B.1, Venkatraman Sadanand M.D., Ph.D.1,2, Nandita Ghosal M.D.3, and Alangar S. Hegde M.Ch., Ph.D.1
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  • 1 Departments of Neurosurgery and
  • | 3 Pathology, Sri Sathya Sai Institute of Higher Medical Sciences, Bangalore, India; and
  • | 2 Department of Neurosurgery, Loma Linda University, Loma Linda, California
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Giant plexiform neurofibroma (GPNF) of the scalp is an extremely rare lesion reported in association with neurofibromatosis. Occipital location of GPNF is even more infrequent, especially in association with occipital dysplasia (OD). The authors report 2 pediatric cases of GPNF associated with OD. The first case had an associated meningoencephalocele, and the second had large vascular channels within the lesion and the dominant ipsilateral transverse sinus lying in the center of the calvarial defect. The authors present these 2 unusual cases with a review of literature and discuss the radiological findings, theories of etiopathogenesis of the OD, and management dilemmas.

Abbreviations used in this paper:

GPNF = giant plexiform neurofibroma; NF1 = neurofibromatosis Type 1; OD = occipital dysplasia; PNF = plexiform neurofibroma; SNF = segmental neurofibromatosis.

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