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A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma

Yang EH, Kim YM, Kim KJ, Cha SH, Kwak MJ

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the...
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Solitary Pigmented Plexiform Neurofibroma in Lower Eyelid: A Case Report

Yoon HJ, Yoon KC, Kim GE, Choi W

PURPOSE: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. CASE SUMMARY: A 12-year-old...
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Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants

Kim A, Moon JS, Yang HR, Chang JY, Ko JS, Seo JK

PURPOSE: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized...
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Glioblastoma in a Patient with Neurofibromatosis Type 1: A Case Report and Review of the Literature

Jeong TS, Yee GT

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited familial tumor syndrome. Benign tumors such as pilocytic astrocytoma, optic glioma make up the majority of intracranial neoplasms in patients with...
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Optic Neuritis Mimicking Ischemic Optic Neuropathy and Optic Glioma

Kang EM, Kwon KY, Choi MJ, Kim CY, Seong GJ, Hong S

PURPOSE: To report a case of optic neuritis difficult to differentiate from ischemic optic neuropathy and optic nerve glioma. CASE SUMMARY: A 63-year-old male visited our clinic because of a sudden...
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An orbital hemangioendothelioma of fetus detected by prenatal ultrasonography

Bae JG, Lim SY, Rhee JH, Kim JI, Park JC

Most orbital tumors of infants include retinoblastoma, dermoid cyst (teratoma), optic nerve glioma and nevus, and hemangioendothelioma is found in rare cases. Hemangioendothelioma, the tumor of intermediate malignancy between angiosarcoma...
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Optochiasmatic Cavernous Angioma with Rapid Progression after Biopsy Despite Radiation Therapy

Jo KW, Kim SD, Chung EY, Park IS

We present a rare case of optochiasmatic cavernous angioma (CA) that progressed despite radiation therapy. A 31-year-old female patient presented with sudden loss of left visual acuity and right homonymous...
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A Case of Radiologically Suspected Mesenteric Plexiform Neurofibromas in a Patient with Type I Neurofibromatosis

Oh SM, Kim YO, Son YJ, Woo YJ

  • KMID: 2329433
  • J Korean Child Neurol Soc.
  • 2009 Nov;17(2):226-230.
Neurofibromatosis type I(NF-1) is an autosomal dominant neurocutaneous syndrome characterized by cafe-au-lait spots, optic glioma, skeletal dysplasia, and iris hamartoma. Mesenteric plexiform neurofibromas(PNF) have been rarely reported in NF-1, especially...
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A Case of Neurofibromatosis Type I with Moyamoya Syndrome and Ganglioneuroma in Lung

Sim JY, Lim JS, Han YS, Kim JY, Kim WS

  • KMID: 2329432
  • J Korean Child Neurol Soc.
  • 2009 Nov;17(2):221-225.
Neurofibromatosis type I is one of the most common neurocutaneous syndrome which is inherited by autosomal dominant manner, characterized by cafe au-lait spots, axillary freckling, Lisch nodules in iris, multiple...
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Ophthalmic Manifestations in Patients With Neurofibromatosis

Bang J, Yang HS, Ahn JH, Kook KH, Chang YH

  • KMID: 2337743
  • J Korean Ophthalmol Soc.
  • 2008 Nov;49(11):1829-1838.
PURPOSE: To report the ophthalmic manifestations of neurofibromatosis in Korea. METHODS: Ophthalmologic examinations were performed from November 2001 to January 2008 for 153 consecutive patients who were diagnosed with neurofibromatosis according...
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A Case of Early Gastric Adenocarcinoma and Intraabdominal Schwannoma in a Patient with Neurofibromatosis Type I

Im DH, Whang HC, Oh JS, Kim HJ, Lee HM, An JK, Kim KJ, Cheong JY, Park WI, Yang US

  • KMID: 1930075
  • Korean J Gastrointest Endosc.
  • 2007 Feb;34(2):83-87.
Neurofibromatosis is an autosomal dominant hereditary disorder with an overall incidence of one in 3,000~4,000, and type 1 (Von Recklinghausen's neurofibromatosis) characterized by the presence of multiple cutaneous neurofibromas, axillary...
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A Case of Moyamoya Disease with Neurofibromatosis Type I

Lee MA, Eum JP, Lee HY, Cha BH

  • KMID: 2279609
  • Korean J Pediatr.
  • 2005 Jan;48(1):93-96.
Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic...
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Neurofibromatosis Type 1 with Cerebellar Piloytic Astrocytoma

Jeon IS, Kim JS, Kim JH, Kim NR

  • KMID: 1654707
  • Korean J Pediatr.
  • 2004 Apr;47(4):458-461.
Neurofibromatosis type 1(NF1) is one of the most common inherited disorders, clinically characterized by cafe-au-lait spots, Lisch nodules and neurofibromas. In addition, the affected individuals usually develop benign and malignant...
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Fractionated Stereotactic Radiosurgery(FSRS) for Sella and Parasella Tumors Adjacent to Optic Apparatus

Park HJ, Yee GT, Choi CY, Sohn MJ, Lee DJ, Whang CJ

  • KMID: 1588437
  • J Korean Neurosurg Soc.
  • 2004 Oct;36(4):281-285.
OBJECTIVE: Compared with other neural structures, optic apparatus are particularly sensitive to radiation. If tumors are adjacent to or in contact with optic apparatus, a number of limitations need to...
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A Case of Colon Cancer in a Patient with Neurofibromatosis Type I

Kim KJ, Choi SR, Sohn SH, Lee S, Hong KB, Keum DJ, Jee SR, Lee JH, Han SY, Shin WW

  • KMID: 1864985
  • Korean J Gastroenterol.
  • 2002 Dec;40(6):402-405.
Neurofibromatosis type I is an autosomal dominant disorder that occurs once in 3,000 births. It is characterized by neurofibromas and caf au lait spots of the skin. Neurofibromatosis type...
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Clinical Characteristics, Including Endocrinological Changes, of Optic Glioma in Children

Yu JS, Kim SY, Shin CH, Kim KJ, Yang SW, Hwang YS

  • KMID: 2335373
  • J Korean Pediatr Soc.
  • 1998 Aug;41(8):1111-1119.
PURPOSE: Optic glioma is a primary tumor arising from the optic nerve and/or chiasm. When located in the hypothalamus, it can produce endocrine signs such as diencephalic syndrome, diabetes insipidus,...
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A Case of Juvenile Xanthogranuloma Associated with Neurofibromatosis

Juhn BJ, Paik JH, Lee MH

  • KMID: 2086029
  • Korean J Dermatol.
  • 1998 Feb;36(1):129-132.
Neurofibromatosis is a systemic hereditary disorder with varied manifestations in bone, soft tissue, the nervous system, and skin. Neurofibromatosis is characterized by cafe au lait macules, neurofi- bromas, Lisch nodules,...
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Analysis of Classification and Incidence of Eyelid and Orbital Tumors

Lee TS, Lee JJ

  • KMID: 2108271
  • J Korean Ophthalmol Soc.
  • 1997 Oct;38(10):1700-1705.
We histopathologically analysed 221 consecutive cases of lid(97 cases ) and orbital(124 cases) tumors from 1992 through 1996 to investigate types and incidence of tumors. In cases of eyelid tumor,...
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Optic Nerve Glioma: A Case of Surgical Treatment to the Optic Chiasm Tumor

Jang HJ, Min EJ, Park BI

  • KMID: 2204984
  • J Korean Ophthalmol Soc.
  • 1991 May;32(5):397-400.
A twenty nine-year-old woman has suffered for ten years from progressive proptosis and loss of vision in the right eye. Her right eye had deviated out-and-upwards, and its visual acuity...
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Primary Third Ventricular Tumors

Lee SH, Jung HW, Kim HJ, Wang KC, Cho BK, Han DH, Sim BS, Choi KS

  • KMID: 1953178
  • J Korean Neurosurg Soc.
  • 1988 Aug;17(4):717-728.
Intrathird ventricular tumors that mainly occupy the ventricle cavity without extending to the neighbouring structures are rare. These tumors are developed from the choroids plexus, tela, ependyma, subjacent neuroglia and...
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