본문 바로가기
KERD
논문KCI 등재

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류안과학

초록

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranialnerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to presentthe imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy,congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocularmuscles, synergistic divergence, and synergistic convergence.

Abstract

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranialnerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to presentthe imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy,congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocularmuscles, synergistic divergence, and synergistic convergence.

참고문헌 (68)

  1. Gutowski NJ, "110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs)", Neuromuscul Disord, 13, pp.573~578 (2003)
  2. Kim JH, "Presence of the abducens nerve according to the type of Duane’s retraction syndrome", Ophthalmology, 112, pp.109~113 (2005)
  3. Ciftci E, "Driven equilibrium (drive)MR imaging of the cranial nerves V-VIII: comparison with the T2-weighted 3D TSE sequence", Eur J Radiol, 51, pp.234~240 (2004)
  4. Kim JH, "Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging", Ophthalmology, 112, pp.728~732 (2005)
  5. Choi BS, "High-resolution 3D MR imaging of the trochlear nerve", AJNR Am J Neuroradiol, 31, pp.1076~1079 (2010)
  6. Yang HK, "Congenital superior oblique palsy and trochlear nerve absence: a clinical and radiological study", Ophthalmology, 119, pp.170~177 (2012)
  7. Demer JL, "High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus", J AAPOS, 10, pp.135~142 (2006)
  8. Lim KH, "Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy", Invest Ophthalmol Vis Sci, 48, pp.1601~1606 (2007)
  9. Kim JH, "Magnetic resonance imaging in three patients with congenital oculomotor nerve palsy", Br J Ophthalmol, 93, pp.1266~1267 (2009)
  10. Hamed LM, "Associated neurologic and ophthalmologic findings in congenital oculomotor nerve palsy", Ophthalmology, 98, pp.708~714 (1991)
  11. Good WV, "Bilateral congenital oculomotor nerve palsy in a child with brain anomalies", Am J Ophthalmol, 111, pp.555~558 (1991)
  12. Sun CC, "Unilateral congenital third cranial nerve palsy with central nervous system anomalies: report of two cases", Chang Gung Med J, 23, pp.776~781 (2000)
  13. Schulz E, "Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report", Schulz E, Jung H, 9, pp.33~35 (2001)
  14. Kau HC, "High-resolution magnetic resonance imaging of the extraocular muscles and nerves demonstrates various etiologies of third nerve palsy", Am J Ophthalmol, 143, pp.280~287 (2007)
  15. Sato M, "Magnetic resonance imaging and tendon anomaly associated with congenital superior oblique palsy", Am J Ophthalmol, 127, pp.379~387 (1999)
  16. Demer JL, "A 12-year, prospective study of extraocular muscle imaging in complex strabismus", J AAPOS, 6, pp.337~347 (2002)
  17. Kim JH, "MR imaging of familial superior oblique hypoplasia", Br J Ophthalmol, 94, pp.346~350 (2010)
  18. Kim JH, "Absence of the trochlear nerve in patients with superior oblique hypoplasia", Ophthalmology, 117, pp.2208~2213 (2010)
  19. Lee DS, "Morphometry of the trochlear nerve and superior oblique muscle volume in congenital superior oblique palsy", Invest Ophthalmol Vis Sci, 55, pp.8571~8575 (2014)
  20. Yang HK, "Association of superior oblique muscle volumes with the presence or absence of the trochlear nerve on high-resolution MR imaging in congenital superior oblique palsy", AJNR Am J Neuroradiol, 36, pp.774~778 (2015)
  21. Kim JH, "Usefulness of magnetic resonance imaging in a patient with diplopia after cataract surgery", Graefes Arch Clin Exp Ophthalmol, 250, pp.151~153 (2012)
  22. Lee S, "Imaging demonstration of trochlear nerve agenesis in superior oblique palsy emerging during the later life", Clin Neurol Neurosurg, 139, pp.269~271 (2015)
  23. Yang HK, "Absent trochlear nerve with transient diplopia", Neurol Sci, 35, pp.935~937 (2014)
  24. Yang HK, "Absent trochlear nerve with contralateral superior oblique underaction", Graefes Arch Clin Exp Ophthalmol, 251, pp.2297~2298 (2013)
  25. Okanobu H, "Splitting of the extraocular horizontal rectus muscle in congenital cranial dysinnervation disorders", Am J Ophthalmol, 147, pp.550~556.e1 (2009)
  26. Duane A, "Congenital deficiency of abduction associated with impairment of adduction, retraction movements, contraction of palpebral fissure and oblique movements of the eye", Arch Ophthalmol, 34, pp.133~159 (1905)
  27. Huber A, "Electrophysiology of the retraction syndromes", Br J Ophthalmol, 58, pp.293~300 (1974)
  28. Hotchkiss MG, "Bilateral Duane’s retraction syndrome: a clinical-pathologic case report", Arch Ophthalmol, 98, pp.870~874 (1980)
  29. Mulhern M, "Bilateral abducens nerve lesions in unilateral type 3 Duane’s retraction syndrome", Br J Ophthalmol, 78, pp.588~591 (1994)
  30. Parsa CF, "Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging", Am J Ophthalmol, 125, pp.399~401 (1998)
  31. Kim JH, "Abducens nerve is present in patients with type 2 Duane’s retraction syndrome", Ophthalmology, 119, pp.403~406 (2012)
  32. Denis D, "Duane retraction syndrome: MRI features in two cases", J Neuroradiol, 34, pp.137~140 (2007)
  33. Denis D, "Duane retraction syndrome:type II with severe abducens nerve hypoplasia on magnetic resonance imaging", J AAPOS, 12, pp.91~93 (2008)
  34. Yonghong J, "Detailed magnetic resonance imaging findings of the ocular motor nerves in Duane’s retraction syndrome", J Pediatr Ophthalmol Strabismus, 46, pp.278~285 (2009)
  35. Yang HK, "Abducens nerve in patients with type 3 Duane’s retraction syndrome", PLoS One, 11, pp.e0150670~ (2016)
  36. Kim JH, "MR imaging diagnosis of familial Duane’s retraction syndrome by documentation of the absence of the abducens nerves", Eye (Lond), 21, pp.1431~1433 (2007)
  37. Kim JH, "Magnetic resonance imaging in patients with abduction deficit found after head trauma", J Neurol, 252, pp.224~226 (2005)
  38. Kim JH, "Usefulness of MR imaging in children without characteristic clinical findings of Duane’s retraction syndrome", AJNR Am J Neuroradiol, 26, pp.702~705 (2005)
  39. Kim JH, "Duane’s retraction syndrome as a cause of diplopia in adults", Eur J Neurol, 15, pp.e25~e27 (2008)
  40. Kim JH, "Abducens nerve in a patient with Duane retraction syndrome", Can J Ophthalmol, 49, pp.e52~e54 (2014)
  41. Kim JH, "A discrepant abduction as an additional characteristic finding in a patient with Duane’s retraction syndrome", J Neurol, 256, pp.1920~1921 (2009)
  42. Kim JH, "Coexistence of different types of Duane’s retraction syndrome manifesting as a congenital gaze palsy", J Neurol, 253, pp.390~391 (2006)
  43. Demer JL, "Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome", Invest Ophthalmol Vis Sci, 48, pp.5505~5511 (2007)
  44. Verzijl HT, "Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment", Neurology, 61, pp.327~333 (2003)
  45. Ouanounou S, "Mobius syndrome", AJNR Am J Neuroradiol, 26, pp.430~432 (2005)
  46. Pedraza S, "MRI findings in Mobius syndrome: correlation with clinical features", Neurology, 55, pp.1058~1060 (2000)
  47. Dooley JM, "Brainstem calcification in Mobius syndrome", Pediatr Neurol, 30, pp.39~41 (2004)
  48. Pandey PK, "Bilateral incyclotorsion, absent facial nerve, and anotia: fellow travelers in Mobius sequence or oculoauriculovertebral spectrum?", J AAPOS, 11, pp.310~312 (2007)
  49. Verzijl HT, "Radiologic evidence for absence of the facial nerve in Mobius syndrome", Neurology, 64, pp.849~855 (2005)
  50. Fons-Estupina MC, "Moebius sequence: clinico-radiological f indings", Rev Neurol, 44, pp.583~588 (2007)
  51. Dumars S, "Magnetic resonance imaging of the endophenotype of a novel familial Mobius-like syndrome", J AAPOS, 12, pp.381~389 (2008)
  52. Jiao YH, "Magnetic resonance imaging of the extraocular muscles and corresponding cranial nerves in patients with special forms of strabismus", Chin Med J (Engl), 122, pp.2998~3002 (2009)
  53. Park C, "Coexistence of Mobius syndrome and Duane’s retraction syndrome", Graefes Arch Clin Exp Ophthalmol, 250, pp.1707~1709 (2012)
  54. Engle EC, "Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles", Ann Neurol, 41, pp.314~325 (1997)
  55. Heidary G, "Congenital fibrosis of the extraocular muscles", Semin Ophthalmol, 23, pp.3~8 (2008)
  56. Engle EC, "Linkage and homozygosity mapping of a variant of congenital fibrosis of the extraocular muscles to chromosome 11q13. 1", Am J Hum Genet, 61, pp.30~ (1997)
  57. Yamada K, "Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)", Nat Genet, 35, pp.318~321 (2003)
  58. Bosley TM, "Clinical characterization of the HOXA1 syndrome BSAS variant", Neurology, 69, pp.1245~1253 (2007)
  59. Demer JL, "Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A", Invest Ophthalmol Vis Sci, 46, pp.530~539 (2005)
  60. Pieh C, "Congenital fibrosis syndrome associated with central nervous system abnormalities", Graefes Arch Clin Exp Ophthalmol, 241, pp.546~553 (2003)
  61. Harissi-Dagher M, "Congenital fibrosis of the extraocular muscles with brain-stem abnormalities:a novel finding", Can J Ophthalmol, 39, pp.540~545 (2004)
  62. Park KA, "Ectopic brain in the orbit with congenital adduction deficit and simultaneous abduction", Ophthal Plast Reconstr Surg, 23, pp.244~246 (2007)
  63. Oystreck DT, "Synergistic divergence: a distinct ocular motility dysinnervation pattern", Invest Ophthalmol Vis Sci, 50, pp.5213~5216 (2009)
  64. Kim JH, "Variable synergistic divergence", Optom Vis Sci, 86, pp.1386~1388 (2009)
  65. Kim JH, "Adduction on attempted abduction:the opposite of synergistic divergence", Arch Ophthalmol, 124, pp.918~920 (2006)
  66. Pieh C, "Synergistic convergence in congenital extraocular muscle misinnervation", Arch Ophthalmol, 126, pp.574~576 (2008)
  67. Khan AO, "Bilateral synergistic convergence associated with homozygous ROB03mutation (p.Pro771Leu)", Ophthalmology, 115, pp.2262~2265 (2008)
  68. Jain NR, "Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters", Indian J Ophthalmol, 59, pp.162~165 (2011)

관련 논문AI추천

이 간행물의 다른 논문 (14건)