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반비대가 동반된 아놀드-키아리 제1기형-증례보고-

Arnold-Chiari Type I Malformation with Hemihypertrophy-A case report-

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초록

The association between Arnold-Chiari type 1 malformation and hemihypertrophy has not been appreciated but a few case reports have suggested their association and proposed a common pathogenesis of dysembryoplasia of mesoderm. We report a case of 17 year-old girl presenting with left side hemihypertrophy and scoliosis. Magnetic resonance imaging (MRI) study of brain and spine revealed underlying Arnold- Chiari type 1 malformation and syringomyelia. The purpose of this paper is to emphasize the need for central nervous system evaluation in patients with hemihypertrophy.

Abstract

The association between Arnold-Chiari type 1 malformation and hemihypertrophy has not been appreciated but a few case reports have suggested their association and proposed a common pathogenesis of dysembryoplasia of mesoderm. We report a case of 17 year-old girl presenting with left side hemihypertrophy and scoliosis. Magnetic resonance imaging (MRI) study of brain and spine revealed underlying Arnold- Chiari type 1 malformation and syringomyelia. The purpose of this paper is to emphasize the need for central nervous system evaluation in patients with hemihypertrophy.

참고문헌 (10)

  1. Tubbs RS, "Hemihypertrophy and the Chiari I malformation", Pediatr Neurosurg, 38, pp.258~261 (2003)
  2. Jang JY, "Chiari type I malformation in a child with syringomyelia and scoliosis", J Korean Acad Rehabil Med, 24, pp.332~337 (2000)
  3. Weisfeld-Adams JD, "Three sisters with Chiari I malformation with and without associated syringomyelia", Pediatr Neurosurg, 43, pp.533~538 (2007)
  4. Tubbs RS, "Beckwith-Wiedemann syndrome in a child with Chiari I malformation", J Neurosurg, 103, pp.172~174 (2005)
  5. Happle R, "Cutaneous manifestations of lethal genes", Human Genetics, 72, pp.280~ (1986)
  6. Schwarzler P, "Prenatal findings on ultrasound and X-ray in a case of overgrowth syndrome associated with increased nuchal translucency", Prenat Diagn, 21, pp.341~345 (2001)
  7. Jaubert J, "Three new allelic mouse mutations that cause skeletal overgrowth involve the natriuretic peptide receptor C gene", Proc Natl Acad Sci USA, 통권 : 96, pp.10278~10283 (1999)
  8. Tubbs RS, "Cutaneous manifestations and the Chiari I malformation", Pediatr Neurol, 29, pp.250~252 (2003)
  9. Lapresle J, "Segmental muscular hypertrophy in Arnold-Chiari deformity associated with syringomyelia syndrome", Rev Neurol, 132, pp.567~570 (1976)
  10. Rhee WI, "Neuropathic arthropathy induced by syringomyelia due to Arnold-Chiari I malformation", J Korean Acad Rehabil Med, 31, pp.252~256 (2007)

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