Neurofibromatosis type 1 and associated clinical abnormalities in 27 children;Neurofibromatose typ 1 und assoziierte krankheiten bei 27 kindern und jugendlichen

Klinische Padiatrie

Volumn 219, Issue 6, 2007, Pages 326-332

  Syrbe, S ^a,b   Eberle, K ^b   Strenge, S ^b   Bernhard, M K ^a   Herbertz, S ^a   Bierbach, U ^a   Hirsch, W ^b   Froster, U G ^b   Kiess, W ^a   Merkenschlager, A ^a  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Hamartoma; Juvenile xanthogranuloma; Mutation; Neurofibromatosis; NF1; Optic glioma; UBO

Indexed keywords

NEUROFIBROMIN;

ARTICLE; ASTROCYTOMA; CAFE AU LAIT SPOT; CANCER DIAGNOSIS; CANCER SCREENING; CENTRAL NERVOUS SYSTEM TUMOR; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EPILEPSY; EYE TUMOR; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAMARTOMA; HEALTH SURVEY; HEART TUMOR; HUMAN; INTERNAL CAROTID ARTERY ANEURYSM; JUVENILE XANTHOGRANULOMA; LENTIGO; MACROCEPHALY; MALE; MORPHOLOGY; NEUROFIBROMA; NEUROFIBROMATOSIS; NODULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE GLIOMA; PHEOCHROMOCYTOMA; PUBERTY DISORDERS; PULMONARY VALVE STENOSIS; SCOLIOSIS; SHORT STATURE; STRABISMUS; SYMPTOMATOLOGY;

ADOLESCENT; AGE FACTORS; ASTROCYTOMA; BRAIN NEOPLASMS; CARDIOVASCULAR DISEASES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, NEUROFIBROMATOSIS 1; GENOTYPE; HAMARTOMA; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROFIBROMATOSIS 1; OPTIC NERVE GLIOMA; PHENOTYPE; TEMPORAL LOBE; XANTHOGRANULOMA, JUVENILE;

EID: 36949021313     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973086     Document Type: Article

References (36)

1. Carmi D, Shohat M, Metzker A, Dickerman Z. Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study. Pediatrics 1999; 103: 1257-1262
2. Cambiaghi S, Restano L, Caputo R. Juvenile Xanthogranuloma associated with neurofibromatosis 1:14 Patients without evidence of hematologic malignancies. Pediatr Dermatol 2004; 21: 97-101
3. Cnossen MH, Stam EN, Cooiman LCMG, Simonsz HJ, Stroink H, Oranje AP, Halley DJJ, Goed-Bolder A de, Niermeijer MF, Muinck Keizer-Schrama SMPF de. Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. Pediatrics 1997; 100: 667-670
4. Committee on genetics. Health supervision for children with neurofibromatosis. Pediatrics 1995; 96: 368-372
5. Creange A, Zeller J, Rostaing-Rigattieri S, Brugieres P, Degos JD, Revuz J, Wolkenstein P. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999; 122: 473-481
6. DeBella K, Szudek J, Friedman JM. Use of the National Institute of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000; 105: 608-614
7. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet 2000; 66: 790-818
8. Farmer JP, Khan S, Khan A, Ortenberg J, Freeman C, O'Gorman AM, Montes J. Neurofibromatosis type 1 and the pediatric neurosurgeon: a 20 year institutional review. Pediatr Neurosurg 2002; 37: 122-136
9. Gitter AD, Zhu Y, Ismat FA, Lu MM, Yamauchi Y, Parada LF, Epstein JA. NF1 has an essential role in endothelial cells. Nat Genet 2003; 33: 75-79
10. Griffith 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: e49
11. Grill J, Laithier V, Rodriguez D, Raquin M-A, Pierre-Kahn A, Kalifa C. When do children with optic pathway tumours need treatment? An oncological perspective in 106 patients treated in a single centre. Eur J Pediatr 2000; 159: 692-696
12. Guillamo JS, Creange A, Kalifa C, Grill J, Rodriguez D, Doz F, Barbarot S, Zerah M, Sanson M, Bastuji-Garin S, Wolkenstein P. Prognostic factors of CNS tumours in neurofibromatosis 1 (NF1). Brain 2003; 126: 152-160
13. Hope DG, Mulvihill JL. Malignancy in neurofibromatosis. Adv Neurol 1981; 29: 33-56
14. Korf BR. Diagnostic outcome in children with multiple cafe au lait spots. Pediatrics 1992; 90: 924-927
15. Lama G, Graziano L, Calabrese E, Grassia C, Rambaldi PF, Cioce F, Tedesco MA, Di Salvo G, Esposito-Salsano M. Blood pressure and cardiovascular involvement in children with neurofibromatosis type 1. Pediatr Nephrol 2004; 19: 413-418
16. Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000; 95: 108-117
17. Listernick R, Charrow J, Greenwald M, Mets M. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 1994; 125: 63-66
18. Mentzel H-J, Seidel J, Fitzek C, Eichhorn A, Vogt S, Reichenbach JR, Zintl F, Kaiser WA. Pediatric brain MRI in neurofibromatosis type I. Eur Radiol 2005; 15: 814-822
19. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing. Hum Mut 2000; 15: 541-555
20. Morier P, Merot Y, Paccaud D, Beck D, Frenk E. Juvenile chronic granulocytic leukemia, juvenile xanthogranulomas, and neurofibromatosis. Case report and review of the literature. J Am Acad Dermatol 1990; 22: 962-965
21. Nichols JC, Amato JE, Chung SM. Characteristics of Lisch nodules in patients with neurofibromatosis type 1. J Pediatr Ophtalmol Strabismus 2003; 40: 293-296
22. North K. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol 1993; 8: 395-402
23. North K. Neurofibromatosis type 1. Am J Med Genet 2000; 97: 119-127
24. Obringer AC, Meadows AT, Zackai. The diagnosis of neurofibromatosis 1 in the child under the age of 6 years. Am J Dis Child 1989; 143: 717-719
25. Pinson S. Neurofibromatosis type 1. Orphanet encyclopedia
26. Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981; 305: 1617-1627
27. Riffaud L, Vinchon M, Ragragui O, Delestret I, Ruchoux MM, Dhellemmes P. Hemispheric cerebral gliomas in children with NF1: arguments for a long-term follow-up. Child's Nerv Syst 2001; 18: 43-47
28. Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet Med 2005; 7: 495-500
29. Schievink WI, Riedinger M, Maya MM. Frequency of incidental intracranial aneurysms in neurofibromatosis type 1. Am J Med Genet 2005; A134: 45-48
30. Seidel J, Mentzel H, Eichhorn J, Casten A, Kauf A, Herrmann E, Zintl J. Neurofibromatose Typ 1 (NF1) im Kindes- und Jugendalter. Merkmalsausprägung, Diagnostik- und Therapieoptionen. Monatsschrift Kinderheilkunde 2005; 153: 664-671
31. Szudek J, Birch P, Riccardi VM, Evans DG, Friedman JM. Associations of clinical features in neurofibromatosis 1 (NF1). Genet Epidemiol 2000; 19: 429-439
32. Thiagalingam S, Flaherty M, Billson F, North K. Neurofibromatosis type 1 and optic pathway gliomas. Follow-up of 54 patients. Ophtalmology 2004; 111: 568-577
33. Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet 2004; 41: 35-41
34. Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, Cagozzi L, Garavelli L, Bernasconi S. Growth and pubertal disorders in neurofibromatosis type 1. J Pediatr Endocrinol Metab 2003; 2: 289-292
35. Wolkenstein P, Freche B, Zeller J, Revuz J. Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients. Arch Dermatol 1996; 132: 1333-1336
36. Xu GF, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62: 599-608