• Childhood Kidney Diseases
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• v.16 no.1
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• pp.68-71
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• 2012

Neurofibromatosis is a rare systemic disease, and genitourinary tract involvement is especially uncommon. Bladder is the most frequently involved organ in the genitourinary tract. Bladder neurofibromatosis may present as a diffuse infiltrative process or an isolated neurofibroma. The symptoms vary, ranging from urinary incontinence to retention. Treatment is usually conservative. The patient should be worked up to rule out other manifestation of tumor enlargement and followed to evaluate the development of new lesion. We report a case of the development of invasion of bladder in a patient with neurofibromatosis.

• 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.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 Chest Surgery
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• v.28 no.10
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• pp.946-950
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• 1995

Neurosarcoma is relatively rare, but is seen frequently in association with stigmata of neurofibromatosis ie., Cafe au lait pigmentation and cutaneous neurofibromatosis. Both advanced age and association with neurofibromatosis increase the likelihood of malignant degeneration to neurosarcoma. It also may be dumb bell-shaped with intraspinal extension. Thoracic meningocele is rare and represents a protrusion of the dural sac through an abnormally large or malformed intervertebral foramen. The patient is usually asymptomatic, with evidence of paravertebral mass on the chest rentgenogram. In one operation we removed a "Dumb-bell" neurosarcoma and intrathoracic meningocele in a 52 year old woman using a cervical laminectomy with a trap-door incision. She was discharged at 17 days after the operation with a sequelae of excision of nerve roots C8 and T1. Postoperative radiation therapy was performed during the follow-up period.up period.

• Archives of Plastic Surgery
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• v.47 no.1
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• pp.92-96
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• 2020

Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma originating from the sheaths of peripheral nerves. Approximately 50% of MPNSTs occur in patients with neurofibromatosis (NF). These tumors often present as deep soft tissue lesions, arising from the nerve plexuses of the extremities or from the nerves extending from the trunk. They rarely occur in the skin, especially in patients with NF. Herein, we report our experience with an MPNST of the skin in a patient with NF.

• 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.64 no.4
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• pp.149-156
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• 2021

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous cafe-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.2
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• pp.240-245
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• 2010

Neurofibromatosis type 1, an autosomal dominant disorder with prevalence of 1 per 3000 people, has clinical features of cafe au lait spots in skin, multiple neurofibroma and dysplasia in skeletal, endocrinal, and blood vessel systems. Actual intraoral neurofibromas are known to occur in 25% of patients. A 9 year-old girl diagnosed with type 1 neurofibromatosis visited our hospital with chief complaint of gingival swelling. Gingival enlargement in lower anterior region existed and cafe au lait spots were confirmed in patient' skin. Enlarged gingival tissue were excised under local anesthesia. Neurofibroma was confirmed with biopsy. Clinical examination after months showed fine recovery without any evidence of recurrence. Due to its possibility of recurrence, periodic follow-up will be needed.

• Clinical and Experimental Pediatrics
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• v.57 no.9
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• pp.410-415
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• 2014

Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

• Journal of Korean Neurosurgical Society
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• v.38 no.1
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• pp.16-22
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• 2005

Objective : The authors characterize a syndrome of multiple neurogenic tumors in the spinal canal, which is unclassifiable by the current National Institute of Health[NIH] criteria for neurofibromatosis. Methods : We retrospectively examined cases in which two or more spinal neurogenic tumors were detected by magnetic resonance[MR] imaging and which had been pathologically confirmed. Eighteen patients were recruited between February 1986 and March 2002. According to NIH criteria, eight cases were neurofibromatosis type 1[NF1], four were type 2[NF2], and six were neither type 1 nor type 2 [Unclassifiable : UC]. The locations of lesions, clinical presentations, radiological findings, and pathological results with immunohistochemistry were reviewed. Results : In the case of NF2, three of four cases were intradural tumors. Pathological examinations revealed neurilemmomas in two of four NF2 and all of the UC cases. In the case of NF1, pathological examinations showed seven neurofibromas and one neurilemmoma. Concerning UC, the age at presentation was middle-aged to late [mean age 48.5, range 35 to 64], which contrasted with ordinary NF2, where patients tended to become symptomatic before 20years of age. The pathological examinations of UC cases revealed neurilemmoma similar to most of NF2 and the immunohistochemical study showed characteristic of NF1. Conclusion : Multiple neurogenic tumors in the spinal canal are an under-recognized disease entity. Further studies for genetic aberration in multiple spinal neurogenic tumors are needed.