Neurofibromatosis Type 1 associated with vitiligo and left occipital bone defect

✓ The authors report an extremely rare case of neurofibromatosis Type 1 (NF1) with a suboccipital meningocele presenting as a huge retropharyngeal mass. A 73-year-old woman with typical cutaneous manifestations of NF1 presented with nasal obstruction and dysphagia due to a retropharyngeal mass. Magnetic resonance imaging revealed a huge mass lesion extending from the right occipital bone defect to the retropharynx through the right paravertebral region. Computerized tomography scanning after intrathecal administration of contrast material confirmed that the mass was a meningocele protruding through a right occipital bone defect. The authors attempted to ligate this meningocele, most of which was excised via a suboccipital approach, but a second transcervical operation was required. Finally, the meningocele resolved and the patient was discharged without symptoms.

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Congenital extra calvarial plexiform neurofibroma in occipito-cervical region with Occipital bone defect with neurofibromatosis type 1 and segmental neurofibromatosis: Case report and review of literature

Journal of Pediatric Neurosciences ◽

10.4103/1817-1745.199469 ◽

2016 ◽

Vol 11 (4) ◽

pp. 295 ◽

Cited By ~ 2

Author(s):

VivekKumar Kankane ◽

Gaurav Jaiswal ◽

TarunKumar Gupta

Keyword(s):

Case Report ◽

Bone Defect ◽

Neurofibromatosis Type 1 ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Occipital Bone ◽

Cervical Region ◽

Review Of Literature ◽

Occipital Bone Defect

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Repair of Occipital Bone Defects in Neurofibromatosis Type 1 by Means of CAD/CAM Prefabricated Titanium Plates

Craniomaxillofacial Trauma & Reconstruction ◽

10.1055/s-0037-1608699 ◽

2018 ◽

Vol 11 (4) ◽

pp. 324-330

Author(s):

Reinhard E. Friedrich ◽

Pedram Emami ◽

Christian Hagel ◽

Johannes Wikner ◽

Henning Hanken

Keyword(s):

Neurofibromatosis Type 1 ◽

Computer Aided Design ◽

Neurofibromatosis Type ◽

Bone Defects ◽

Occipital Bone ◽

Skeletal Defects ◽

Computer Aided ◽

Cad Cam ◽

Skull Trauma

Certain skeletal defects may develop in neurofibromatosis type 1 (NF1), a common tumor-suppressor syndrome, such as cranial lesions confined to the lambdoid suture region. Here, we report on the repair of osseous defects of occipital bone in a NF1 patient with history of skull trauma and tumorous hemorrhage. Computer-aided design and computer-aided manufacturing (CAD/CAM)-assisted devices were applied to safely close the bone defects. The variable phenotype of NF1 in the occipital skull region is discussed and a brief review is presented on NF1-related therapies for tumors and malformations of the occipitoparietal skull region.

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