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

Report of 2 cases

Restricted access

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:

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.



  • View in gallery

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

  • View in gallery

    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.

  • View in gallery

    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.

  • View in gallery

    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.

  • View in gallery

    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.

  • View in gallery

    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).



Bodhey NKGupta AK: Neurofibromatosis type I with occipital encephalocele. Neurol India 54:1031042006


Chen TCKuo WRChai CYJuan KH: Huge plexiform neurofibroma of the head and liver—case report. Gaoxiong Yi Xue Ke Xue Za Zhi 7:6506561991


Dang JDCohen PR: Segmental neurofibromatosis and malignancy. Skinmed 8:1561592010


Francis DMMackie W: Life-threatening haemorrhage in patients with neurofibromatosis. Aust N Z J Surg 57:6796821987


Karwacki MWWozniak WThe skeleton abnormalities in patients with neurofibromatosis type 1: important consequences of abnormal gene function. Dionyssiotis Y: Osteoporosis New YorkInTech2012. 323341


Kurimoto MMizumaki YFukuda OHayashi NKuwayama NEndo S: Giant plexiform neurofibroma and suboccipital meningocele manifesting as segmental neurofibromatosis. Neurol Med Chir (Tokyo) 48:2712742008


Maroun FBJacob JCMarkesteyn PHMercer DR: Congenital venous malformation of the scalp associated with plexiform neurofibroma and cranial defect. Case report. J Neurosurg 31:4654671969


Mislow JMProctor MRMcNeely PDGreene AKRogers GF: Calvarial defects associated with neurofibromatosis Type 1. Report of two cases. J Neurosurg 106:6 Suppl4844892007


Mohamed KN: Neurofibromatosis and multiple skull defects: a case report. Singapore Med J 27:4504521986


Nakasu SNakasu YMatsuda IHanda J: [Giant neurofibroma of the occipital scalp associated with lambda defect-case report (author's transl).]. No To Shinkei 33:1811851981. (Jpn)


Ohaegbulam SC: “Congenital” plexiform neurofibroma of the occipital scalp. Case report. J Neurosurg 46:2452471977


Rainov NGHeidecke VBurkert W: Thoracic and lumbar meningocele in neurofibromatosis type 1. Report of two cases and review of the literature. Neurosurg Rev 18:1271341995


Renshaw ABorsetti MNelson RJOrlando A: Massive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a cervical mass. Br J Plast Surg 56:5145172003


Saha MMAgarwal KNBhardwaj OP: Calvarial bone defects in neurofibromatosis. Am J Roentgenol Radium Ther Nucl Med 105:3193211969


Scott M: Massive plexiform neurofibroma of the occipital scalp. Case report. J Neurosurg 25:81821966


Wakuta YMitani T: Giant epicranial neurofibroma—case report. Neurol Med Chir (Tokyo) 28:6906941988


Yoshida YShindo MYamamoto O: Occipital bone dysplasia associated with diffuse plexiform neurofibroma. Eur J Dermatol 21:4524532011




All Time Past Year Past 30 Days
Abstract Views 100 100 13
Full Text Views 65 65 5
PDF Downloads 155 155 9
EPUB Downloads 0 0 0


Google Scholar