Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1

1999 ◽  
Vol 91 (3) ◽  
pp. 503-505 ◽  
Author(s):  
Masanori Kurimoto ◽  
Yutaka Hirashima ◽  
Nakamasa Hayashi ◽  
Shunro Endo ◽  
Masayoshi Ohi ◽  
...  
Keyword(s):  
Bone Defect ◽  
Neurofibromatosis Type 1 ◽  
Contrast Material ◽  
Neurofibromatosis Type ◽  
Occipital Bone ◽  
Cutaneous Manifestations ◽  
Content Type ◽  
The Right ◽  
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.

Successful surgical repair of progressive exophthalmos caused by a meningocele in a patient with neurofibromatosis Type 1

1998 ◽  
Vol 89 (6) ◽  
pp. 1032-1035 ◽  
Author(s):  
Joost de Vries ◽  
Hans Peter M. Freihofer ◽  
Tomas Menovsky ◽  
Johannes R. M. Cruysberg
Keyword(s):  
Visual Acuity ◽  
Neurofibromatosis Type 1 ◽  
Surgical Repair ◽  
Visual Fields ◽  
Neurofibromatosis Type ◽  
Content Type ◽  
Ocular Movements ◽  
Orbital Wall ◽  
The Right

✓ A case of surgical repair of progressive exophthalmos of the right eye in a 43-year-old woman with neurofibromatosis Type 1 (NF1) is presented. Preoperatively, the patient's ocular movements and visual fields were intact. Visual acuity was 20/30 on the right side and 20/20 on the left. Computerized tomography scanning demonstrated complete absence of the superolateral orbital wall on the right side with a large meningocele protruding into the right orbit. Intraoperatively, a new superolateral wall was constructed using the inner table of the left frontal bone as a bone transplant. A free galeoperiosteum flap was used for water-tight dural reconstruction. A few weeks postoperatively the patient's exophthalmos showed remarkable resolution. Her ocular movements, visual acuity, and visual fields remained unchanged. In conclusion, reconstruction of the superolateral wall and repair of a meningocele in a patient with NF1 is worthwhile and can be followed by excellent cosmetic results. More important, the patient's visual functions remain preserved.

Establishment and characterization of a novel malignant astrocytoma cell line derived from a tumor removed in a patient with neurofibromatosis Type 1

2001 ◽  
Vol 94 (2) ◽  
pp. 301-308 ◽  
Author(s):  
Masanori Kurimoto ◽  
Yutaka Hirashima ◽  
Tsuneaki Ogiichi ◽  
Hideo Hamada ◽  
Hironaga Kamiyama ◽  
...  
Keyword(s):  
Cell Line ◽  
Neurofibromatosis Type 1 ◽  
Proliferative Activity ◽  
Neurofibromatosis Type ◽  
Malignant Astrocytoma ◽  
Content Type ◽  
Astrocytoma Cell Line ◽  
Astrocytoma Cell ◽  
Fine Print

Object. Patients with neurofibromatosis Type 1 (NF1) have a predisposition to development of a variety of benign and malignant tumors including neurofibromas, astrocytomas, pheochromocytomas, and malignant peripheral nerve sheath tumors. The availability of an astrocytoma cell line derived from NF1 would be useful in studies in which sporadic astrocytomas could be compared with NF1-derived astrocytomas. In this article the authors describe a novel astrocytoma cell line, TM-31, that they established from a tumor removed in a 42-year-old woman with NF1. Methods. The TM-31 cell line was prepared from a surgical specimen of malignant astrocytoma and was serially subcultured over 250 times throughout a 6-year period without showing any sign of cell senescence. Immunocytochemical analyses demonstrated that TM-31 cells are negative for glial fibrillary acidic protein but positive for vimentin and S-100 protein. The TM-31 cells display little neurofibromin expression when subjected to immunoblotting, indicating that there is an NF1 gene mutation. Polymerase chain reaction—single-strand conformational polymorphism analysis revealed that TM-31 cells harbor a p53 point mutation in exon 7, codon 238. Chemosensitivity testing of TM-31 cells revealed a resistance to 1-(4-amino-2-methyl-5-pyrimidinyl)methyl-3-(2-chloroethyl)-3-nitrosourea, although they are sensitive to cisplatin and etoposide. In addition, TM-31 cells displayed no morphological differentiation after all-transretinoic acid and dibutyryl cyclic adenosine monophosphate treatments. Pharmacological inhibition of farnesyltransferase of the Ras oncoprotein led to decreased proliferative activity and inhibition of anchorage-independent growth of TM-31 cells in soft agar. Conclusions. The TM-31 cell line is an immortalized astrocytoma cell line derived from a tumor obtained in a patient with NF1. Ras activation may be the major event of proliferative activity and of the transformed phenotype of TM-31 cells, and the farnesyltransferase inhibitor may be potentially important as a novel antiproliferative therapy for NF1-derived astrocytomas.

An unusual pterygopalatine meningocele associated with neurofibromatosis Type 1

2000 ◽  
Vol 93 (3) ◽  
pp. 480-483 ◽  
Author(s):  
Paul H. Chapman ◽  
Hugh D. Curtin ◽  
Michael J. Cunningham
Keyword(s):  
Cavernous Sinus ◽  
Neurofibromatosis Type 1 ◽  
Lateral Wall ◽  
Neurofibromatosis Type ◽  
Middle Fossa ◽  
Recurrent Meningitis ◽  
Superior Orbital Fissure ◽  
Content Type ◽  
Middle Fossa Approach

✓ The authors describe an unusual meningocele of the lateral wall of the cavernous sinus and the anterior skull base in a young patient with typical stigmata of neurofibromatosis Type 1 (NF1). This lesion was discovered during evaluation for recurrent meningitis. It represented an anterior continuation of Meckel's cave into a large cerebrospinal fluid space within the lateral wall of the cavernous sinus, extending extracranially through an enlarged superior orbital fissure into the pterygopalatine fossa adjacent to the nasal cavity. It was successfully obliterated, via an intradural middle fossa approach, with fat packing and fenestration into the subarachnoid space. This meningocele most likely represents a variant of cranial nerve dural ectasia occasionally seen in individuals with NF1. It has as its basis the same mesodermal defect responsible for the more common sphenoid wing dysplasia and spinal dural ectasias identified with this condition. Involvement of the trigeminal nerve with expansion of the lateral wall of cavernous sinus has not been reported previously. The authors surmise, however, that it may be present in some cases of orbital meningocele associated with sphenoid wing dysplasia.

Recurrent multiple neurofibromatosis type  1 of the right lower limb

2018 ◽  
Vol 47 (3) ◽  
pp. 254-260
Author(s):  
Leitao Huang ◽  
Xia Wu ◽  
Yi Ding ◽  
Lai Qi ◽  
Wei Li ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Lower Limb ◽  
Neurofibromatosis Type ◽  
The Right

scholarly journals Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Marija Milković Periša ◽  
Tihana Džombeta ◽  
Jasminka Stepan Giljević ◽  
Božo Krušlin
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Young Patients ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Sheath ◽  
The Right

Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. We present a case of 12.5-year-old girl with NF1 who first presented with MPNST of the right inguinal region and 1.5 years later with unrelated angiosarcoma of the scalp.

Bilateral Congenital Pseudarthrosis of the Tibia with Neurofibromatosis Type 1: Case Report and Literature Review

2021 ◽  
pp. 1-9
Author(s):  
Bunyamin Ari ◽  
Sabit Numan Kuyubasi ◽  
Admin
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Correction Osteotomy ◽  
Pathological Fractures ◽  
Café Au Lait Spots ◽  
The Right ◽  
Fibular Grafting ◽  
Gene Mutation Analysis

Congenital pseudoarthrosis of the tibia (CTP) is a pathology characterized by dysplasia and pathological fractures in the tibia which fail to heal on its own. Its relationship with neurofibromatosis type 1 is already known. A very rare case; an 13 year old child diagnosed with NF1, accompanying bilateral CTP was presented in this article. She also had occasional blood pressure attacks and café au lait spots. She was diagnosed with NF, by gene mutation analysis and the BT results reported that pseudoarthrosis affected both tibiae. The patient was successfully treated by performing fibular grafting and external fixation operation of the tibia with internal and Ilizarov technique. Correction osteotomy was performed and grafted with 20 cc synthetic bone graft on the part of the right tibia where the bowing deformity was observed; the left tibia was not osteotomized as the bowing deformity was slighter. As a result of the 13-month follow-up,

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

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.

Sign in / Sign up

Export Citation Format

Share Document