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신경섬유종증 환자의 1형 히아리기형과 척수공동증

A Case of Chiari Type 1 Malformation and Syringomyelia in Neurofibromatosis Type 1 Patient

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주제분류신경과학

초록

A 26-year-old woman presented with skin pigmentation and numbness on the upper arm. More than six café au lait spots over 15 mm diameter could be seen throughout her skin. Neurofibromatosis (NF) type 1 was diagnosed based on genetic study. The brain magnetic resonance imaging (MRI) showed Chiari type 1 malformation and syringomyelia was noted in the C2 to T7 level in the spinal MRI. We suggest Chiari malformation and syringomyelia could be a rare manifestation in a patient with NF type 1.A 26-year-old woman presented with skin pigmentation and numbness on the upper arm. More than six café au lait spots over 15 mm diameter could be seen throughout her skin. Neurofibromatosis (NF) type 1 was diagnosed based on genetic study. The brain magnetic resonance imaging (MRI) showed Chiari type 1 malformation and syringomyelia was noted in the C2 to T7 level in the spinal MRI. We suggest Chiari malformation and syringomyelia could be a rare manifestation in a patient with NF type 1.

Abstract

A 26-year-old woman presented with skin pigmentation and numbness on the upper arm. More than six café au lait spots over 15 mm diameter could be seen throughout her skin. Neurofibromatosis (NF) type 1 was diagnosed based on genetic study. The brain magnetic resonance imaging (MRI) showed Chiari type 1 malformation and syringomyelia was noted in the C2 to T7 level in the spinal MRI. We suggest Chiari malformation and syringomyelia could be a rare manifestation in a patient with NF type 1.

참고문헌 (10)

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  2. AfifiAK, "Ventriculomegaly in neurofibromatosis-1. Association of Chiari type 1 malformation", Neurofibromatosis, 1, pp.299~305 (1988)
  3. Dooley J, "The association of Chiari type 1 malformation and Neurofibromatosis type 1", Clin Paediatr, 32, pp.189~190 (1993)
  4. Battistella PA, "Neurofibromatosis type 1 and Chiari type 1 malformation : an unusual association", Child’s Nerv Syst, 12, pp.336~338 (1996)
  5. Fernandez JA, "Syringomyelia, Chiari 1 malformation and scoliosis in a patient with type 1 neurofibromatosis", An Esp Paediatric, 48, pp.522~524 (1998)
  6. Incecik F, "Optic pathway glioma, scoliosis, Chiari type 1 malformation, and syringomyelia in a patient with Neurofibromatosis type 1", J Neurosci Rural Pract, 4(Suppl 1), pp.S141~S143 (2013)
  7. Karaconji T, "Neurofibromatosis type 1 : review and update on emerging therapies", Asia Pac J Ophthalmol, 8, pp.62~72 (2019)
  8. Tubbs RS, "Chiari 1 malformation and Neurofibromatosis type 1", Paediatr Neurol, 30, pp.278~280 (2004)
  9. Brems H, "Mechanisms in the pathogenesis of malignant tumours in Neurofibromatosis type 1", Lancet Oncol, 10, pp.508~515 (2009)
  10. De Luca A, "NF1gene mutations represent the major molecular event underlying neurofibromatosis-noonan syndrome", Am J Hum Genet, 77, pp.1092~1101 (2005)

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