Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

7.Bonnet P, Dechaume J, Blanc E. L’Aneury cirsoide de la retina (aneurysme racmeux); ses relations avec l’aneurysme cirsoide de la face et avec l’aneurysme cirsoide du cerveau. J Med Lyons 1937;18: 165–178.

8.Bourneville D. Scleros tubereuse des circonvolutions cerebrales idotie et epilepsy hemipelegique. Arch Ophthalmol 1880;1:181– 191.

9.Bouzas EA, Parry DM, Eldridge R, et al. Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2. Retina 1992;12:103–107.

10.Briggs RJ, Brackman DE, Baser ME, et al. Comprehensive management of bilateral acoustic neuromas: current pespectives. Arch Otolaryngol Head Neck Surg 1994;120:1307–1314.

11.Brown DG, Hilal SH, Tenner HS. Wyburn–Mason syndrome: report of two cases without retinal involvement. Arch Neurol 1973;28:67– 68.

12.Carney J, Go VLW, Sizemore GW, et al. Alimentary-tract ganglioneuromatomatosis: a major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med 1976;295:1287– 1291.

13.Carney JA, Bianco AJ, Sizeman GW, et al. Multiple endocrine neoplasia with skeletal manifestations. J Bone Joint Surg 1981;63A: 405–408.

14.Cawthon R, Weiss R, Xu G, et al. A major segment of neurofibromatosis type 1 gene: cDNA sequence, genomic structure and point mutations. Cell 1990;62:193–201.

15.Christenson L, Yankowitz J, Robinson R. Prenatal diagnosis of Kippel–Trenaunay–Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae. Prenatal Diagn 1997;17:1176– 1180.

16.Choyke PL, Glen GM, Walther MM, et al. von Hippel–Lindau disease: genetic, clinical and imaging features. Radiology 1995;194: 629–642.

17.Cibis G, Tripayhi R, Tripayhi B. Glaucoma in Sturge–Weber syndrome. Ophthalmology 1984;91:1061–1071.

18.Clarke A, Church W, Gardner-Medwin D, et al. Intracranial calcification and seizures: a case of central neurofibromatosis. Dev Med Child Neurol 1990;32:729–732.

19.Clark RD. Proteus syndrome. In: Neurofibromatoses. A pathogenetic and clinical review. London: Chapman & Hall, 1994.

20.Cohen MM Jr. The elephant man did not have neurofibromatosis. Proc Greenwood Genet Cent 1987;6:187–192.

21.Cohen MM Jr. Proteus syndrome: clinical evidence of somatic mosaicism and selective review. 1993;47:645–642.

22.Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. In: O’Donnell JJ, Hall BD (eds) Birth defects: original article series, vol 15. White Plains, NY: March of Dimes, 1979:291– 196.

23.Costa RM, Yang T, Huynh DP, et al. Learning deficits but normal development and tumor predisposition, in mice lacking exon 23a of NF1. Nat Genet 2001;27:354–355.

24.Crowe FW. Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med 1964;61:1142–1143.

25.Dabora SL, Jozwaik S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64–80.

26.De Becker I, Gajda DJ, Gilbert-Barness E, Cohen MM. Ocular manifestations in Proteus syndrome. Am J Med Genet 2000;92:350– 352.

27.DeClue JE, Cohen BD, Lowy DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci USA 1991;88:9914–9918.

28.DeGuttierrez A, Salamanca F, Lisker R, et al. Supernumeray bisatellited chromosome in a family acertained through a patient with Sturge–Weber syndrome. Ann Genet 1975;18:45–49.

29.Destro M, D’Amico DJ, Gragoudas ES, et al. Retinal manifestations of neurofibromatosis. Diagnosis and management. Arch Ophthalmol 1991;109:662–666.

30.Eldridge R, Martuza RL, Parry DM. Neurofibromatosis 2. In: Johnson RT (ed) Current therapy in neurologic diseases. New York: Dekker, 1990.

31.Evans DGR, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom: prevalence, mutations rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992;29:841–846.

32.Evans DGR, Huson SM, Neary W, et al. A clinical study of type 2 neurofibromatosis.Q J Med 1992;304:603–618.

33.Font RL, Freey AP. The phakomatoses. Int Ophthalmol Clin 1972;12: 1–51.

34.Fredrich CA. Genotype-phenotype correlation in von Hippel–Lindau syndrome. Hum Mol Genet 2001;10:763–767.

35.Fryns JP, Chrzanowska. Mucosal neuromata syndrome [MEN type IIb (III)]. J Med Genet 1988;25:703–706.

36.Gass JDM, Brunstein R. Sessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head. Arch Ophthalmol 1980;98:1790–11797.

37.Gatti RA. Ataxia-telangiectasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:705–732.

38.Gilbert-Barness E, Cohen MM, Opitz JM. Mutiple meningiomas, craniofacial hyperostosis and retinal abnormalities. Am J Med Genet 2000;93:234–240.

39.Grant WM, Walton DS. Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch Ophthalmol 1968;79:127– 137.

40.Gutman DH, Collins FS. Neurofibromatosis 1. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. New York: McGraw Hill, 2001:877–896.

41.Gutmann GH, Ayisworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51–58.

42.Gutmann DH, Collins FS. The neurofibromatosis type 1 gene review and its protein product. Neuron 1993;10:335–343.

43.Habiby R, Silverman B, Listernick R. Precocious puberty in children with neurofibromatosis type 1. J Pediatr 1995;126:364.

44.Hardwig P, Robertson DM. von Hippel–Lindau disease: a familial, often lethal, multi-system phakomatoses. Ophthalmology 1984;91: 263–270.

45.Horton JC, Harsh GR IV, Fisher JW, et al. von Hippel–Lindau disease and erythrocytosis: radioimmunassay of erythropoietin in cysts fluid from a brainstem hemangioblastoma. Neurology 1991;41:753–754.

46.Huson S. Clinical and genetic studies of von Recklinghausen neurofibromatosis. MD thesis. Edinburgh: Edinburgh University, 1989.

47.Huson SM, Upadhyaya M. Neurofibromatosis I: clinical management and genetic counseling. In: The neurofibromatosis: a pathogenetic and clinical overview. London: Chapman & Hall, 1994.

48.Insler MS, Helm C, Napoli S. Conjunctival harmatoma in neurofibromatosis. Am J Ophthalmol 1985;99:731.

49.Jacobs AH, Walton RG. The incidence of birthmarks in the neonate. Pediatrics 1976;58:218–220.

50.Jones KL. Tuberous sclerosis. In: Smith’s recognizable patterns of human malformation, 5th edn. San Diego: University of California, 1997:506–507.

51.Kalff V, Shapiro B, Lloyd R, et al. The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis. Arch Intern Med 1982;142:2092–2098.

52.King AA, DeBaun MR, Riccardi VM, et al. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet 2000; 93:388–392.

53.Kippel M, Trenaunay P. Du naevus variqueux osteo-hypertrophique. Arch Gen Med 1900;85:641–672.

54.Korbin Jl, Blodi PC, Weingeist TA. Ocular and orbital manifestations of neurofibromatosis. Surv Ophthalmol 1979;24:45.

55.Kotagal P, Rothner D. Epilepsy in the setting of neurocutaneous syndrome. Epilepsia 1993;34:S71.

56.Krause Y, Rosler A, Guttmann H, et al. Somatostatin receptor scintigraphy for early detection of regional and distant metastases of medullary carcinoma of the thyroid. Clin Nucl Med 1999;24:256– 260.

57.Kwiatowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol 1994;130:348–354.

58.Leao M, da Silva ML. Evidence of central nervous system involvement in Watson syndrome. Pediatr Neurol 1995;12:252–254.

59.Lewis RA, Riccardi VM, von Recklinghausen neurofibromatosis: II. Incidence of iris harmatoma. Ophthalmology 1981;88:348–354.

60.Limaye SR, Doyle HA, Tang RA. Retinal varicosity in Kippel– Trenaunay syndrome. J Pediatr Ophthalmol Strabismus 1979;16: 371–373.

61.Lindau A. Studien uber Kleinhircysten: Bau, Pathogenes and Berziehungen zur Angiomatosis retinae. Acta Pathol Microbiol Scand Suppl 1926;1:1–128.

62.Linehan WM, Zbar B, Klausner. Renal cell carcinoma. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:907–929.

63.Lisch K. Ueber Beteiligung der Augen, insbesondere das Vorkommen von Irisknotchen bei der Neurofiromatose (Recklinghausen). Z Augenheilkd 1937;93:137–143.

64.Listernick R, Charrow J, Greenwald M, et al. Natural history of optic pathway tumors in children with neurofibromatosis type I: a longitudinal study. J Pediatr 1994;125:63–66.

65.Louis-Bar D. Sur un syndrome progressif comprenant des telangiectasies cappillaires untanees et conjonctivales, a dispostion naevpode et des troubles cerebelleux. Confin Neurol 1941;4:32–42.

66.Lubs MLE, Bauer MS, Formas ME, et al. Lisch nodules in neurofibromatosis type 1. N Engl J Med 1991;324:1264.

67.MaCollin M, Gusella J. Neurofibromatosis 2. In: Scriver CR, Beaudet AL Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. New York: McGraw Hill, 2001;897–906.

68.Maher ER, Iselius L, Yates JRW, et al. von Hippel–Lindau disease: a genetic study. J Med Genet 1990;28:443–447.

69.Maher ER, Iselius L, Yates JR, et al. von Hippel–Lindau disease a genetic study. J Med Genet 1991;28:443–447.

70.Maher ER, Moore AT. von Hippel–Lindau disease. Br J Ophthalmol 1992;76:743–745.

71.Maher ER, Yates JR, Harris R, et al. Clinical features and natural history of von Hippel–Lindau disease. Q J Med 1970;77;1151– 1163.

72.Marti-Bonmati L, Menor F, Mulas F. The Sturge–Weber syndrome: correlation between the clinical status and radiological and MRI findings. Child’s Nerv Syst 1993;9:857–871.

73.Martin GA, Viskocil D, Bollaguski G, et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras21. Cell 1990;63:843–849.

74.Mautner VF, Tagiba M, Lindenan M, et al. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study, frequency, multiplicity, and variety. AJR (Am J Roentgenol) 1995;165:952–955.

75.Moore AT, Maher ER, Rosen, et al. Ophthalmological screening for von Hippel–Lindau disease. Eye 1992;5:723–728.

76.Morrison PJ, Nevin NC. Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann–Froboese syndrome). J Med Genet 1996;33:779–782.

77.Narod SA, Parry DM, Parboosingh J, et al. Neurofibromatosis type 2 appears to be genetically homogeneous disease. Am J Hum Genet 1992;51:486–496.

78.National Institutes of Health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol 1988;45: 575–578.

79.National Institute of Health Consensus Development Conference Statement. Acoustic neuroma. Neurofibromatosis Res Newsl 1992; 8:1–7.

80.Nyboer J, Robertson D, Gomez M. Retinal lesions in tuberous sclerosis. Arch Ophthalmol 1976;94:1277–1280.

81.Ogunmekan A, Hwang P, Hoffman H. Sturge–Weber–Dimitri disease. Role of hemispherectomy in prognosis. Can J Neurol Sci 1989;16:78.

82.Ojemann RG. Management of acoustic neuromas (vestibular schwannomas). Clin Neurosurg 1993;40:489–495.

83.Opitz JM, Weaver DDL. The neurofibromatosis–Noonan syndrome. Am J Med Genet 1985;21:477–490.

84.Osborne JP, Fryer A, Webb D. Epidemiology of tuberoses sclerosis. Ann NY Acad Sci 1991:615:125–127.

85.Ozonoff S. Cognitive impairment in neurofibromatosis type 1. Am J Med Genet 1999;89:45–52.

86.Park VM, Pivnick EK. Neurofibromatosis type 1 (NF1): a protein truncations assay yielding identification of mutations in 73% of patients. J Med Genet 1998;35:813–820.

87.Pearson-Webb MA, Kaiser-Kupfer MI, Elbridge R. Eye finding in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacity and cataracts but absence of Lisch nodules. N Engl J Med 1986;315:1553–1554.

88.Povey S, Burley MW, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 1994;58:107– 127.

89.Ragge NK, Traboulsi EI. Phakomatoses. In: Traboulsi EI (ed) Genetic disease of the eye. New York: Oxford University Press, 1998:753– 756.

90.Ragge NK, Traboulsi EI. Phakomatoses. In: Traboulsi EI (ed) Genetic disease of the eye. New York: Oxford University Press, 1998:750– 753.

91.Ragge NK, Traboulis EI. Phakomatoses. In: Traboulsi EI (ed) Genetic disease of the eye. New York: Oxford University Press, 1998:756– 759.

92.Reynolds JD, Johnson BL, Gioster S, et al. Glaucoma and Kippel– Trenaunay–Weber syndrome. Am J Ophthalmol 1988;196:494–496.

93.Riccardi VM. In: Gutmann DH, MacColin M, Riccardi VM (eds) Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press, 1999:162–189.

94.Roach ES, Gomez MR, Northeup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624–628.

95.Rouleau GA, Merel P, Lutchmam M, et al. Alterations in a new gene encoding a putative membrane organizing protein causes neurofibromatosis type 2. Nature (Lond) 1993;363:515–521.

96.Rouleau GA, Seizinger BR, Ozelius LG, et al. Genetic linkage analysis of bilateral acoustic neurofibromatosis to DNA markers on chromosome 22. Nature (Lond) 1987;329:246–248.

97.Samaan NA, Drazian MB, Halpin RE, et al. Multiple endocrine syndrome type IIb in early childhood. Cancer (Phila) 1991;68:1832–1835.

98.Sampson JR. Tuberous sclerosis. In: Scriver CR, Beaudet AL Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:5857–5873.

99.Shepherd CW, Gomez MR, Lie JT, et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991;66:792–796.

100.Smith RW. A treatise on the pathology, diagnosis and treatment of neuroma. Dublin: Hodges and Smith, 1849.

101.South D, Jacobs A. Cutis marmortata telangiectatica congenital (congenital generalized phlebectasia). J Pediatr 1978;93:944–949.

102.Sujansky E, Conradi S. Outcome of Sturge–Weber syndrome in 52 adults. Am J Med Genet 1995;22:35–45.

103.Sullivan T, Clarke M, Morin J. The ocular manifestations of the Sturge–Weber syndrome. J Pediatr Ophthalmol Strabismus 1992;29: 349–356.

104.Susac JO, Smith JL, Scelfo RJ. The “tomato-catsup” fundus in Sturge–Weber syndrome. Arch Ophthalmol 1974;92:69–73.

105.Theron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology 1974;7:185–196.

106.Traboulsi EI, Dudin G, To’mey, et al. The association of a fragile site on chromosome 10 with Sturge–Weber syndrome and congenital glaucoma. Ophthalmic Paediatr Genet 1983;3:135–140.

107.Vasen HFA, van der Feltz M, Rare F, et al. The natural course of multiple endocrine neoplasia type IIb. Arch Intern Med 1992;251: 1250–1255.

108.Viskochil D, White R, Cawthon R. The neurofibromatosis type 1 gene. Annu Rev Neurosci 1993;10:183–205.

109.Vogt H. Zur Diagnostik der Tubersen Sklerose. Z Erforch Behandl Jugendl Schwaschisinns 1908;2:1–12.

110.von-Hippel E. Ubereine sehr seltene Erlranking der Netzhaut klinische Becobachtungn. Albrecht von Graefe’s Arch Ophthalmol 1904;59:83–106.

111.von Recklinghausen F. Uber die multiplen Frome der Haut und ibre Beziehung zu den multiplen Neuromen. Berlin: Hirschwald, 1882.

112.Wiedemann HR, Burgio GR, Aldenhoff P, et al. The proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983;140:5–12.

113.Wishart JH. Case of tumors in the skull, dura mater, and brain. Edinb Med Surg J 1882;18:393–397.

114.Wyburn-Mason R. Arteriovenous aneurysm of mid-brain, facial naevi and mental changes. Brain 1943;66:162–203.

115.Young DF, Eldridge R, Gardner WJ. Bilateral acoustic neuromas in a large kindred. JAMA 1970;214:347–253.

116.Zhu Y, Parada LF. A particular GAP in mind. Nat Genet 2001;27: 354–355.

into ceruloplasmin and biliary excretion of copper are severely impaired; intestinal absorption of copper is normal. The net effect is accumulation of copper in liver, causing liver damage, and an increase in nonceruloplasmin copper in plasma, resulting in deposition of copper in extrahepatic tissues and organs, particularly brain, kidney, and eye, and also in skeletal and heart muscle, bones, and joints.63

Clinical manifestations of liver disease can appear at any age beyond 6 years. Episodes of jaundice, vomiting, and malaise are common. Often the course is chronic with progressive hepatic insufficiency, portal hypertension, splenomegaly, gastroesophageal varices, and ascites. In some cases the onset is acute. There may be fulminant hepatic failure with progressive jaundice, coagulopathy, encephalopathy, and in some cases early death.

Neurological manifestations may appear in adolescence but more commonly develop in the adult years. The most frequent neurological signs are dysarthria and incoordination of voluntary movements, often accompanied by involuntary movements and disorders of posture and tone. Pseudobulbar palsy may develop and can lead to death. Cognitive and sensory functions usually are preserved, but intellectual and behavioral deterioration may occur. The neurological manifestations are attributed to involvement of the basal ganglia (lenticular degeneration), deep cerebral cortical layers, cerebellum, and less commonly, the brainstem.

Renal tubular damage is common; poor growth and acidosis or renal stones may be presenting features. Many patients develop bone and joint problems, including osteomalacia, osteoporosis, spontaneous fractures, osteoarthritis, ligamentous laxity, and joint hypermobility. Cardiac involvement may lead to arrhythmias and congestive heart failure. Some patients develop hypothyroidism.

The ocular hallmark of Wilson’s disease is the Kayser–Fleis- cher ring, due to copper deposition in Descemet’s membrane (Fig. 7-1). Clinically this appears as a band of golden to greenishyellow, bronze, or brownish hue in the periphery of the cornea; it may form a complete circumferential band (commonly 1– 3 mm in width) near the limbus, or involve only the superior and inferior crescents of the cornea.275 When advanced, the ring may be detected with the naked eye or ophthalmoscope, but slit lamp examination is essential for accurate diagnosis, particularly in the early stages; in some cases gonioscopy is necessary to detect subtle findings.

FIGURE 7-1. Kayser–Fleischer ring of Wilson’s disease.

The Kayser–Fleischer ring is present in virtually all patients with neurological manifestations of Wilson’s disease and is commonly present in those with nonneurological signs, although it is often absent in patients who present with acute liver disease; it is also often absent in asymptomatically affected siblings of patients with Wilson’s disease.63 (Note: A similar ring can be seen in patients with non-Wilsonian liver disease.282)

A less frequent manifestation of Wilson’s disease is sunflower cataract (“scheinkataract”), composed of fine copper pigment deposits beneath the anterior and posterior lens capsule that form a disclike opacity axially with radiating spoke-or petallike extensions.266,282 On slit lamp examination, the opacities appear to be of various colors, including reds, blues, greens, yellows, and browns. The opacities reportedly do not impair vision. (Note: Similar cataracts can be caused by exogenous copper.266)

Ocular motor functions usually are spared in Wilson’s disease, although jerky oscillations of the eyes, gaze paresis, involuntary gaze movements, impairment of accommodation and convergence, infrequent or absent blinking and apraxia of lid opening have occasionally been noted.61,104,141,149 Night blindness and retinal changes have been reported in some

cases.104,202,217,232