PDF herunterladen
Journal of Pediatric Neuroradiology 2016; 05(03): 196-206
DOI: 10.1055/s-0036-1592426
Review Article
Georg Thieme Verlag KG Stuttgart • New York

Acquired and Congenital Abnormalities of the Pediatric Globe and Optic Nerve

Alok A. Bhatt
1   Department of Imaging Sciences, University of Rochester Medical Center, Rochester, New York, United States
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
03. Oktober 2016 (online)

    Lizenzen und Reprints

Abstract

Abnormalities of the pediatric globe and optic nerve present with different clinical features than adults. While many of these lesions are benign, most have a significant impact on vision, and therefore, the radiologist can play a key role in patient care. This article will review the radiologic features of retinoblastoma, the most common pediatric orbital tumor, as well as other congenital abnormalities such as persistent hyperplastic primary vitreous, Coats disease, and retinopathy of prematurity. Abnormalities of globe development, such as coloboma and vascular lesions, will also be discussed, as these should prompt imaging of the entire neuroaxis due to association with systemic syndromes. Tumors of the optic nerve can also unmask an underlying syndrome, the most common being an optic nerve glioma occurring in the setting of neurofibromatosis type I.

Keywords

globe - optic nerve - retinoblastoma - coloboma - staphyloma - Coats disease - retinopathy of prematurity - persistent hyperplastic primary vitreous
 

  • References

  • 1 Chung EM, Specht CS, Schroeder JW. From the archives of the AFIP: Pediatric orbit tumors and tumorlike lesions: neuroepithelial lesions of the ocular globe and optic nerve. Radiographics 2007; 27 (4) 1159-1186
    CrossrefPubMedGoogle Scholar
  • 2 Dimaras H, Kimani K, Dimba EA , et al. Retinoblastoma. Lancet 2012; 379 (9824) 1436-1446
    CrossrefPubMedGoogle Scholar
  • 3 Knudson Jr AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68 (4) 820-823
    CrossrefPubMedGoogle Scholar
  • 4 Balmer A, Zografos L, Munier F. Diagnosis and current management of retinoblastoma. Oncogene 2006; 25 (38) 5341-5349
    CrossrefPubMedGoogle Scholar
  • 5 Rao AA, Naheedy JH, Chen JY, Robbins SL, Ramkumar HL. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol 2013; 2013: 975908
    PubMedGoogle Scholar
  • 6 Burns NS, Iyer RS, Robinson AJ, Chapman T. Diagnostic imaging of fetal and pediatric orbital abnormalities. Am J Roentgenol 2013; 201 (6) W797-W808
    CrossrefPubMedGoogle Scholar
  • 7 de Graaf P, Barkhof F, Moll AC , et al. Retinoblastoma: MR imaging parameters in detection of tumor extent. Radiology 2005; 235 (1) 197-207
    CrossrefPubMedGoogle Scholar
  • 8 Shields CL, Shields JA, Shah P. Retinoblastoma in older children. Ophthalmology 1991; 98 (3) 395-399
    CrossrefPubMedGoogle Scholar
  • 9 Jakobiec FA, Tso MO, Zimmerman LE, Danis P. Retinoblastoma and intracranial malignancy. Cancer 1977; 39 (5) 2048-2058
    CrossrefPubMedGoogle Scholar
  • 10 Provenzale JM, Weber AL, Klintworth GK, McLendon RE. Radiologic-pathologic correlation. Bilateral retinoblastoma with coexistent pinealoblastoma (trilateral retinoblastoma). Am J Neuroradiol 1995; 16 (1) 157-165
    PubMedGoogle Scholar
  • 11 Razek AA, Elkhamary S. MRI of retinoblastoma. Br J Radiol 2011; 84 (1005) 775-784
    CrossrefPubMedGoogle Scholar
  • 12 Saunders T, Margo CE. Intraocular medulloepithelioma. Arch Pathol Lab Med 2012; 136 (2) 212-216
    CrossrefPubMedGoogle Scholar
  • 13 Broughton WL, Zimmerman LE. A clinicopathologic study of 56 cases of intraocular medulloepitheliomas. Am J Ophthalmol 1978; 85 (3) 407-418
    CrossrefPubMedGoogle Scholar
  • 14 Shields JA, Eagle Jr RC, Shields CL, Potter PD. Congenital neoplasms of the nonpigmented ciliary epithelium (medulloepithelioma). Ophthalmology 1996; 103 (12) 1998-2006
    CrossrefPubMedGoogle Scholar
  • 15 Vajaranant TS, Mafee MF, Kapur R, Rapoport M, Edward DP. Medulloepithelioma of the ciliary body and optic nerve: clinicopathologic, CT, and MR imaging features. Neuroimaging Clin N Am 2005; 15 (1) 69-83
    CrossrefPubMedGoogle Scholar
  • 16 Sansgiri RK, Wilson M, McCarville MB, Helton KJ. Imaging features of medulloepithelioma: report of four cases and review of the literature. Pediatr Radiol 2013; 43 (10) 1344-1356
    CrossrefPubMedGoogle Scholar
  • 17 Haddad R, Font RL, Reeser F. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmol 1978; 23 (2) 123-134
    CrossrefPubMedGoogle Scholar
  • 18 Kaste SC, Jenkins III JJ, Meyer D, Fontanesi J, Pratt CB. Persistent hyperplastic primary vitreous of the eye: imaging findings with pathologic correlation. Am J Roentgenol 1994; 162 (2) 437-440
    CrossrefPubMedGoogle Scholar
  • 19 Smirniotopoulos JG, Bargallo N, Mafee MF. Differential diagnosis of leukokoria: radiologic-pathologic correlation. Radiographics 1994; 14 (5) 1059-1079 , quiz 1081–1082
    CrossrefPubMedGoogle Scholar
  • 20 Sun MH, Kao LY, Kuo YH. Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings. Chang Gung Med J 2003; 26 (4) 269-276
    PubMedGoogle Scholar
  • 21 Castillo M, Wallace DK, Mukherji SK. Persistent hyperplastic primary vitreous involving the anterior eye. Am J Neuroradiol 1997; 18 (8) 1526-1528
    PubMedGoogle Scholar
  • 22 Ghorbanian S, Jaulim A, Chatziralli IP. Diagnosis and treatment of coats' disease: a review of the literature. Ophthalmologica 2012; 227 (4) 175-182
    CrossrefPubMedGoogle Scholar
  • 23 Shields JA, Parsons HM, Shields CL, Shah P. Lesions simulating retinoblastoma. J Pediatr Ophthalmol Strabismus 1991; 28 (6) 338-340
    CrossrefPubMedGoogle Scholar
  • 24 Egbert PR, Chan CC, Winter FC. Flat preparations of the retinal vessels in Coats' disease. J Pediatr Ophthalmol 1976; 13 (6) 336-339
    PubMedGoogle Scholar
  • 25 Steidl SM, Hirose T, Sang D, Hartnett ME. Difficulties in excluding the diagnosis of retinoblastoma in cases of advanced Coats' disease: a clinicopathologic report. Ophthalmologica 1996; 210 (6) 336-340
    CrossrefPubMedGoogle Scholar
  • 26 Edward DP, Mafee MF, Garcia-Valenzuela E, Weiss RA. Coats' disease and persistent hyperplastic primary vitreous. Role of MR imaging and CT. Radiol Clin North Am 1998; 36 (6) 1119-1131 , x
    CrossrefPubMedGoogle Scholar
  • 27 Sapieha P, Joyal JS, Rivera JC , et al. Retinopathy of prematurity: understanding ischemic retinal vasculopathies at an extreme of life. J Clin Invest 2010; 120 (9) 3022-3032
    CrossrefPubMedGoogle Scholar
  • 28 Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 2004; 41 (12) 881-891
    CrossrefPubMedGoogle Scholar
  • 29 Simmons JD, LaMasters D, Char D. Computed tomography of ocular colobomas. Am J Roentgenol 1983; 141 (6) 1223-1226
    CrossrefPubMedGoogle Scholar
  • 30 Guercio JR, Martyn LJ. Congenital malformations of the eye and orbit. Otolaryngol Clin North Am 2007; 40 (1) 113-140 , vii
    CrossrefPubMedGoogle Scholar
  • 31 Mahmud MB, Yousem DM. Congenital cystic lesions of the neck. Appl Radiol 2013; 42 (1) 8-22
    PubMedGoogle Scholar
  • 32 Morimoto AK, Wiggins III RH, Hudgins PA , et al. Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. Am J Neuroradiol 2006; 27 (8) 1663-1671
    PubMedGoogle Scholar
  • 33 Ho CK, Kaufman RL, Podos SM. Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. J Med Genet 1975; 12 (3) 289-293
    CrossrefPubMedGoogle Scholar
  • 34 Anderson RL, Epstein GA, Dauer EA. Computed tomographic diagnosis of posterior ocular staphyloma. Am J Neuroradiol 1983; 4 (1) 90-91
    PubMedGoogle Scholar
  • 35 Smith M, Castillo M. Imaging and differential diagnosis of the large eye. Radiographics 1994; 14 (4) 721-728
    CrossrefPubMedGoogle Scholar
  • 36 Turell ME, Singh AD. Vascular tumors of the retina and choroid: diagnosis and treatment. Middle East Afr J Ophthalmol 2010; 17 (3) 191-200
    CrossrefPubMedGoogle Scholar
  • 37 Leung RS, Biswas SV, Duncan M, Rankin S. Imaging features of von Hippel-Lindau disease. Radiographics 2008; 28 (1) 65-79 , quiz 323
    CrossrefPubMedGoogle Scholar
  • 38 Smoker WR, Gentry LR, Yee NK, Reede DL, Nerad JA. Vascular lesions of the orbit: more than meets the eye. Radiographics 2008; 28 (1) 185-204 , quiz 325
    CrossrefPubMedGoogle Scholar
  • 39 Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM, Zbar B. von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology 1995; 194 (3) 629-642
    CrossrefPubMedGoogle Scholar
  • 40 Karimi S, Nourinia R, Mashayekhi A. Circumscribed choroidal hemangioma. J Ophthalmic Vis Res 2015; 10 (3) 320-328
    CrossrefPubMedGoogle Scholar
  • 41 Mafee MF, Ainbinder DJ, Hidayat AA, Friedman SM. Magnetic resonance imaging and computed tomography in the evaluation of choroidal hemangioma. Int J Neuroradiol 1995; 1: 67-77
    PubMedGoogle Scholar
  • 42 Stroszczynski C, Hosten N, Bornfeld N , et al. Choroidal hemangioma: MR findings and differentiation from uveal melanoma. Am J Neuroradiol 1998; 19 (8) 1441-1447
    PubMedGoogle Scholar
  • 43 Griffiths PD, Boodram MB, Blaser S , et al. Abnormal ocular enhancement in Sturge-Weber syndrome: correlation of ocular MR and CT findings with clinical and intracranial imaging findings. Am J Neuroradiol 1996; 17 (4) 749-754
    PubMedGoogle Scholar
  • 44 Nozaki T, Nosaka S, Miyazaki O , et al. Syndromes associated with vascular tumors and malformations: a pictorial review. Radiographics 2013; 33 (1) 175-195
    CrossrefPubMedGoogle Scholar
  • 45 Purohit BS, Vargas MI, Ailianou A , et al. Orbital tumours and tumour-like lesions: exploring the armamentarium of multiparametric imaging. Insights Imaging 2016; 7 (1) 43-68
    CrossrefPubMedGoogle Scholar
  • 46 Barnes PD, Robson CD, Robertson RL, Poussaint TY. Pediatric orbital and visual pathway lesions. Neuroimaging Clin N Am 1996; 6 (1) 179-198
    PubMedGoogle Scholar
  • 47 Swenson SA, Forbes GS, Younge BR, Campbell RJ. Radiologic evaluation of tumors of the optic nerve. Am J Neuroradiol 1982; 3 (3) 319-326
    PubMedGoogle Scholar
  • 48 Miller NR. Primary tumours of the optic nerve and its sheath. Eye (Lond) 2004; 18 (11) 1026-1037
    CrossrefPubMedGoogle Scholar
  • 49 Kanamalla US. The optic nerve tram-track sign. Radiology 2003; 227 (3) 718-719
    CrossrefPubMedGoogle Scholar
  • 50 Kornreich L, Blaser S, Schwarz M , et al. Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis. Am J Neuroradiol 2001; 22 (10) 1963-1969
    PubMedGoogle Scholar
  • 51 Jacques C, Dietemann JL. Imaging features of neurofibromatosis type 1 [in French]. J Neuroradiol 2005; 32 (3) 180-197
    CrossrefPubMedGoogle Scholar
  • 52 Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo-Mason G, Cheung S. Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential?. Pediatrics 1999; 104 (4) e49
    CrossrefPubMedGoogle Scholar
  • 53 Gonen O, Wang ZJ, Viswanathan AK, Molloy PT, Zimmerman RA. Three-dimensional multivoxel proton MR spectroscopy of the brain in children with neurofibromatosis type 1. Am J Neuroradiol 1999; 20 (7) 1333-1341
    PubMedGoogle Scholar
  • 54 Billiet T, Mädler B, D'Arco F , et al. Characterizing the microstructural basis of “unidentified bright objects” in neurofibromatosis type 1: a combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin 2014; 4: 649-658
    CrossrefPubMedGoogle Scholar
  • 55 Vargiami E, Sapountzi E, Samakovitis D , et al. Moyamoya syndrome and neurofibromatosis type 1. Ital J Pediatr 2014; 40: 59
    CrossrefPubMedGoogle Scholar