Neurofibromatosis

Current Opinion in Pediatrics

Volumn 9, Issue 1, 1997, Pages 89-93

  Gabriel, Keith R ^a  

^a Cardinal Glennon Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ABERRATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; IDIOPATHIC SCOLIOSIS; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSEUDARTHROSIS; REVIEW; SPINE MALFORMATION; TIBIA;

EID: 0030888410     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199702000-00018     Document Type: Review

References (32)

1. Riccardi V: Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, edn. 2. Baltimore: Johns Hopkins University Press; 1992.
2. Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop D, Carey J, Baty B, Kivlin J, Willard H, Waye J, et al.: Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987, 236:1100-1102.
3. Cawthon R, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, White R: A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990, 62:193-201.
4. Gutmann D, Collins F: The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 1993, 10:335-343.
5. von Deimling A, Krone W, Menon AG: Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol 1995, 5:153-162.
6. Bernards A: Neurofibromatosis type 1 and Ras-mediated signaling: filling in the GAPs. Biochim Biophys Acta 1995, 1242:43-59. This is an extremely detailed review of the current knowledge regarding basic science aspects of neurofibromin.
7. Neurofibromatosis: conference statement National Institutes of Health Consensus Development Conference. Arch Neurol 1988, 45:575-578.
8. Lutchman M, Rouleau GA: The neurofibromatosis type 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells. Cancer Res 1995, 55:2270-2274.
9. National Institutes of Health Consensus Development Conference statement on acoustic neuroma, December 11-13, 1991. Arch Neurol 1994, 51:201-207.
10. Mautner VF, Tatagiba M, Lindenau M, Funsterer C, Pulst S, Kluwe L, Zanella F: Spinal tumors In patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. Am J Roentgenol 1995, 165:951-955. Neurofibromatosis type 2 is sufficiently rare that its manifestations are not yet fully delineated. According to this study, the detection of spinal tumors in patients who do not otherwise satisfy the criteria for NF-2 may allow confirmation of diagnosis. Conversely, the occurrence of multiple spinal tumors should suggest NF-2.
11. Akbarnia BA, Gabriel KR, Beckman E, Chalk D: Prevalence of scoliosis in neurofibromatosis. Spine 1992, 17:S244-S248.
12. Funasaki H, Winter RB, Lonstein JB, Denis F: Pathophysiology of spinal deformities in neurofibromatosis. An analysis of 71 patients who had curves associated with dystrophic changes. J Bone Joint Surg Am 1994, 76:692-700.
13. Haddad FS, Williams RL, Bentley G: The cervical spine in neurofibromatosis. Br J Hosp Med 1995, 53:318-319.
14. Eichhorn C, Wendt G, Staudte HW, Gilsbach JM: Dural ectasia in von Recklinghausen's disease of the lumbar spine: a case report J Bone Joint Surg Br 1995, 77:834-835. This report of an extreme case emphasizes the unusual spinal deformities associated with NF-1 and illustrates the technical difficulties involved in treatment of those deformities.
15. Dacher JN, Zakine S, Monroe M, Eurin D, Lechevallier J, LeDosseur P: Rib displacement threatening the spinal cord in a scoliotic child with neurofibromatosis. Pediatr Radiol 1995, 25:58-59.
16. Deguchi M, Kawakami N, Saito H, Arao K, Mimatsu K, Iwata H: Paraparesis after rib penetration of the spinal canal in neurofibromatous scoliosis. J Spinal Disord 1995, 8:363-367. Rib penetration into the spinal canal is a rare finding in patients with NF scoliosis, as is paraplegia or paraparesis. This case underscores the necessity for complete imaging of the spine in NF scoliosis.
17. Kamath SV, Kleinman PK, Ragland RL, Tenreiro-Picon O, Knorr J, Davidson R, Shelton Y: Intraspinal dislocation of the rib in neurofibromatosis: a case report Pediatr Radiol 1995, 25:538-539.
18. Drevelengas A, Kalaitzoglou I: Giant lumbar meningocele in a patient with neurofibromatosis. Neuroradiology 1995, 37:195-197.
19. Rainov N, Heidecke V, Burkert W: Thoracic and lumbar meningocele in neurofibromatosis type 1. Report of two cases and review of the literature. Neurosurg Rev 1995, 18:127-134.
20. Helfen M, Gotzinger R, Lutke A, Likoyiannis A, Griss P: Intrathoracic dural ectasia mimicking neurofibroma and scoliosis. A case report. Int Orthop 1995, 19:181-184.
21. Wilde H, Upadhyay SS, Leong JCY: Deterioration of operative correction in dystrophic spinal neurofibromatosis. Spine 1994, 19:1264-1270.
22. Craigen MAC, Clarke NMP: Familial congenital pseudarthrosis of the ulna. J Hand Surg Br 1995, 20:331-332.
23. Anderson DJ, Schoenecker PL, Sheridan JJ, Rich MM: Use of an intramedullary rod for the treatment of congenital pseudarthrosis of the tibia. J Bone Joint Surg Am 1992, 74:161-168.
24. Baker JK, Cain TE, Tullos HS: Intramedullary fixation for congenital pseudarthrosis of the tibia. J Bone Joint Surg Am 1992, 74:169-178.
25. Gilbert A, Brockman R: Congenital pseudarthrosis of the tibia. Clin Orthop 1995, 314:37-44.
26. Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka J: Absence of the greater sphenoid wing in neurofibromatosis type 1: congenital or acquired. Case report Neurosurgery 1995, 37:129-133. Hypoplasia of the sphenoid wing is one of the bone lesions characteristic of NF-1. This article discusses the implications of these lesions in terms of causality and diagnostic significance.
27. DiPaolo DP, Zimmerman RA, Rorke LB, Zacki E, Bilaniuk L, Yachnis A: Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 1995, 195:721-724.
28. Denckla MB, Hofman K, Mazzocco MM, Melhem E, Reiss AL, Bryan RN, Harris EL, Lee J, Cox CS, Schuerholz U: Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet 1996, 67:98-102. This is the first report establishing a continuum of lowered IQs in children with NF-1 in relation to the numerical distribution of unidentified bright objects.
29. Huffman JL, Gahtan V, Bowers VD, Mills JL: Neurofibromatosis and arterial aneurysms. Am Surg 1996, 62:311-314.
30. Richardson MG, Setty GK, Rawoof SA: Responses to nondepolarizing neuromuscular blockers and succinylcholine in von Recklinghausen neurofibromatosis. Anesth Analg 1996, 82:382-385.
31. Zoller M, Rembeck B, Akesson HO, Angervall L: Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 1995, 75:136-140.
32. Ablon J: The elephant man as self and other: the psychosocial costs of a misdiagnosis. Soc Sci Med 1995, 40:1481-1489. A thought-provoking discussion based on interviews with patients with NF. The inaccurate diagnosis of Mr. Joseph Merick and the stigma resulting from popular portrayals of his condition are emphasized. More generally, this article serves as a reminder of the human costs associated with diagnostic names and labels.