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

Report of 2 cases

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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.

Article Information

Address correspondence to: Ravi Dadlani, D.N.B., Department of Neurosurgery, Sri Sathya Sai Institute of Higher Medical Sciences, EPIP area, Whitefield, Bangalore 560 066, India. email: ravi.dadlani@gmail.com.

Please include this information when citing this paper: published online September 13, 2013; DOI: 10.3171/2013.8.PEDS12624.

© AANS, except where prohibited by US copyright law.

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Figures

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    Case 1. Preoperative (a) and postoperative (b) photographs. c–e: Postoperative CT scans showing complete excision of the lesion and reconstruction with polymethylmethacrylate.

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    Preoperative neuroimages of the first case. a–d: The MRI studies revealing heterogeneous enhancement (c and d). There is an underlying large meningocele with dysplastic right cerebellar hemisphere. e: The 3D reconstruction CT of the occiput revealing the OD, which measured 8 × 10 cm. This is also depicted in panel g and in the reconstructed sagittal image (f). There was no dysplasia noted in the cervical spine.

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    Case 1. a: Preoperative photograph of the lesion. c: Photograph depicting the “V” plasty and excision of the excess skin. b and d: Intraoperative photographs depicting the meningocele and the cerebellum after complete excision of the lesion.

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    Case 2. Preoperative photographs of the patient (a and b) and postoperative images (c and e). The amount of tissue excised in a subtotal excision is depicted in panel d.

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    Preoperative MRI studies (a–d, g, and h). The lesion is seen as a heterogeneous mass on the T2-weighted axial image (a), with multiple flow voids (double arrows). Axial (b) and sagittal (d) MRI studies obtained after Gd administration reveal a heterogeneous enhancement of the lesion. The coronal MRI study (c) obtained after administration of Gd reveals the location of the dominant ipsilateral transverse sinus present (single arrow in panels c, e, and f). e: Coronal MR venogram. f: Axial CT angiogram.

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    Photomicrographs of a section of neurofibroma showing focal myxoid generation (left) and spindle cells with serpentine nuclei and wispy cytoplasmic borders (right). H & E, original magnification ×100 (left) and ×400 (right).

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