• Journal of Korean Neurosurgical Society
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• v.30 no.2
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• pp.221-226
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• 2001

A rare case of gliosarcoma with neurofibromatosis type I is presented. The patient was a 33-year-old woman who had headache and vomiting for one week. Multiple neurofibromas over her whole body with many cafeau- lait spots were present since childhood. At admission, she had no focal neurological deficit and ophthalmologic examination revealed bilateral Lisch nodules. Brain CT and MRI revealed a heterogeneously enhancing mass in the left fronto-parietal region with marked peritumoral edema and mass effect. The tumor was removed gross totally and a gliosarcoma was diagnosed histopathologically. Post operative course was uneventful with resolution of symptom, followed by radiotherapy with 60 Gy. A brief overview is given of this rare case together with the pertinent literature.

• Clinical and Experimental Pediatrics
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• v.49 no.2
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• pp.203-207
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• 2006

Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive upper gastrointestinal bleeding. We conclude that gastrointestinal bleeding and anemia in the setting of NF1 mandates complete endoscopic examination of the digestive tract to rule out neurofibromas. Surgical resection is the standard treatment.

• Korean Journal of Head & Neck Oncology
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• v.39 no.2
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• pp.45-48
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• 2023

Malignant peripheral nerve sheath tumor (MPNST) is one of the soft tissue sarcoma believed to originate from neural crest cells. The patients with neurofibromatosis type I (NF1) have about 8-13% of the lifetime risk of the malignant transformation. Neurofibroma on patients with NF1 can be surgically resected and has good prognosis if approach to the tumor is possible. We experienced a case of a 50-year-old woman with NF who had incompletely resected neurofibroma, which presented a rapid malignant transformation to MPNST, 3 months after the first surgery. We reported this case with a brief review of literature.

• Tuberculosis and Respiratory Diseases
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• v.65 no.5
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• pp.426-429
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• 2008

Neurogenic tumors are common in posterior mediastinal tumors and neurilemmoma represents approximately 40% of neurogenic tumors arising in the mediastinum. It is usually asymptomatic, and is generally diagnosed incidentally. In some cases, they presented with symptoms of nerve or airway compression. However, a solitary neurilemmoma, particularly not associated with von Recklinghausen disease, with spontaneous hemothorax is quite rare. We report a case of spontaneous massive hemothorax associated with a solitary neurilemmoma.

• Archives of Plastic Surgery
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• v.37 no.4
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• pp.477-480
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• 2010

Purpose: Ganglioneuromas are well-differentiated tumors derived from neuroectodermal neural crest cells. Although these tumors can occur anywhere along the sympathetic chain from the base of the skull to the pelvic cavity, they usually develop in the posterior mediastinum and retroperitoneum these tumors are rarely found in the cervical region. Method: We report the case of a 16-year-old male patient with neurofibromatosis type 1 who was admitted because of a palpable mass centrally located on the left side of the neck. A preoperative contrast-enhanced neck computed tomography image showed a low-density homogeneous mass on the parapharyngeal space along with marked displacement of the trachea and carotid vessels. Round and soft masses were also detected on both axillae. Results: The patient subsequently underwent complete excision of the neck mass via the transcervical approach. The mass was smooth and well encapsulated between the sternocleidomastoid muscle and the trachea. Further, the mass appeared to arise from the cervical sympathetic chain, which was preserved during surgery. Both the axillary masses were also excised. The histopathological findings were ganglioneuroma for the neck mass and neurofibroma for both the axillary masses. Conclusion: Cervical ganglioneuromas are rare tumors that present as enlarging parapharyngeal cervical masses in the oropharynx or neck. To our knowledge, a case of cervical ganglioneuroma associated with neurofibromatosis type 1 has never been reported. In patients with neurofibromatosis, multiple tumors may develop, and therefore periodic clinical and radiological follow-up is recommended. Further, repeated imaging analysis should be performed if the presence of another tumor is suspected.

• Journal of Korean Neurosurgical Society
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• v.30 no.5
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• pp.642-646
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• 2001

A 12-years-old female admitted to the hospital with the complaint of pain on the right upper chest area which persisted about 1 month prior to admission. $Caf{\acute{e}}$-au-lait spots of various size laying on a whole body and freckling on the axilla were found on physical examination. A huge mass was found on the plain chest X-ray and on chest MRI. The mass encroached thoracic spine, posterior rib, back muscles, and then into the neural canal and compressed thoracic spinal cord. On the 5th day of hospitalization, the patient complained tingling on the both legs and 2 days later, monoparesis on the right leg. Open thoracotomy and decompressive laminectomy was done to remove mass. Pathologic reports confirmed rhabdomyosarcoma, embryonal type.

• Journal of Yeungnam Medical Science
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• v.30 no.2
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• pp.105-108
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• 2013

Type 1 neurofibromatosis (von Recklinghausen's disease, NF-1) is an autosomal-dominant neurocutaneous-disorder characterized by systemic cafe'-au-lait spots, multiple cutaneous neurofibromas, axillary or inguinal freckling, and Lisch nodules (pigmented iris hamartomas). Approximately 10-25% of NF1 patients have gastrointestinal neoplasms. Gastrointestinal stromal tumor (GIST) in patients with neurofibromatosis is most commonly found in the small bowel and the stomach, and approximately 60% of such patients have multiple tumors or multiple tumor sites. Although, the increased incidence of GIST in patients with neurofibromatosis is well documented in pathology literature in English, but has rarely been documented in Korea. Here, we report a case of multiple GISTs in a 48-year-old woman accompanied by NF1. She was admitted to Yeung-nam University Hospital with complaints of melena and dyspnea. A contrast-enhanced computed tomography (CT) scan revealed that multiple soft tissue masses were occupying the entire peritoneal cavity. An ultrasonogram- guided biopsy was performed and the tumors were found to have been composed of tumor cells that were positive for c-kit protein. The patient was put on Imatinib mesylate treatment, and further follow-up will be carried out.

• Archives of Plastic Surgery
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• v.38 no.3
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• pp.257-262
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• 2011

Purpose: In neurofibromatosis patients, complete surgical excision of the mass is almost impossible and surgical treatment usually consists of multiple serial excisions that only result in a debulking effect. Remnant tumor mass has a gravitational effect on facial soft tissues that leads to sagging of skin and soft tissue, and eventually, facial disfigurement and asymmetry. The purpose of our surgical method is to perform soft tissue lifting with longer lasting effect with less surgical risk of damaging facial nerve and vessels. With external fixation using K-wire or surgical screw, the procedure only called for a short incision length and had additional adhesive properties that enabled anchoring of soft tissue in a lifted position for a longer postoperative period. Methods: A total of 5 neurofibromatosis patients (NF-1) visited our clinic for mass reduction and face lifting. The age of patients ranged from 13 to 42 (mean 28.8 years), and most patients had a long history of multiple excisions in the past. Face lifting was performed in 2 different areas, the periorbital area in 3 patients, and the midface in 2 patients. The materials used in fixation of retaining ligament were K-wire (n=3) and titanium screw (n=2). Results: Follow up period was from 5 month to 3 years and 1 month (mean=2 years and 1 month). All patients conveyed satisfaction with the results and no major complications were reported. The lifting effect lasted for as long as 3 years, and there were no complaints of relapse of soft tissue depression or sagging within the operated area. 1 patient (M/13) needed secondary k-wire insertion and additional mass excision in 1 year and 10 months postoperatively due to tumor growth. In two patients with K-wire fixation, mild dimpling and tenderness were observed in the follow up period, but in about 2 months postoperatively, dimpling was relieved and there was no need for removal of fixating material. Conclusion: Surgical lifting in neurofibromatosis patients can be challenging, for mass excision cannot be done completely and gravitational effect by residual mass can be persistent. External fixation of the retaining ligament in patients with neurofibromatosis can give satisfactory results-for incision length is relatively shorter, and the lifting effect can last longer compared to other various face lifting techniques.