Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

European Archives of Oto-Rhino-Laryngology

Volumn 263, Issue 1, 2006, Pages 53-61

  Folz, Benedikt J ^a   Zoll, Barbara ^b   Alfke, Heiko ^a   Toussaint, André ^a   Maier, Rolf F ^a   Werner, Jochen A ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Arteriovenous malformations; Hereditary hemorrhagic telangiectasia; Pediatrics; Rendu Osler Weber disease

Indexed keywords

ADOLESCENT; ADULT; ARTERIOVENOUS MALFORMATION; ARTICLE; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE COURSE; EARLY DIAGNOSIS; EPISTAXIS; FAMILY HISTORY; FEMALE; GASTROINTESTINAL HEMORRHAGE; HUMAN; INFANT; LUNG BLOOD VESSEL; LUNG INJURY; MALE; NON INVASIVE MEASUREMENT; ONSET AGE; OUTCOMES RESEARCH; PRIORITY JOURNAL; RECURRENT DISEASE; RENDU OSLER WEBER DISEASE; SCHOOL CHILD; SCREENING; SKIN DEFECT; SYMPTOM; SYMPTOMATOLOGY; VASCULAR LESION;

ADOLESCENT; AGE OF ONSET; ARTERIOVENOUS MALFORMATIONS; CHILD; CHILD, PRESCHOOL; ENDOSCOPY; EPISTAXIS; FEMALE; HUMANS; INFANT; LASER SURGERY; LASER THERAPY; MALE; NASAL CAVITY; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 29344434985     PISSN: 09374477     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00405-005-0956-8     Document Type: Article

References (57)

1. Abrahamian LM, Rothe MJ, Grant-Kels JM (1992) Primary telangiectasia of childhood. Int J Dermatol 31:307-313
2. Allen SW, Whitfield JM, Clarke DR, Sujansky E, Wiggins JW (1993) Pulmonary arteriovenous malformation in the newborn: a familial case. Pediatr Cardiol 14:58-61
3. Audenaert SM, Wood BP (1990) Radiological case of the month. Pulmonary arteriovenous fistula associated with Rendu-Osler-Weber syndrome. Am J Dis Child 144:575-576
4. Ballauff A, Koletzko S (1999) Hereditary hemorrhagic telangiectasia with juvenile polyposis-coincidence or linked autosomal dominant inheritance? Z Gastroenterol 37:385-388
5. Berenstein A, Lasjaunias P (1992) Spine and spinal cord vascular lesions. In: Endovascular treatment of spine and spinal cord lesions. Surgical neuroangiography, vol. 5. Springer, Berlin Heidelberg New York
6. Boal DK, Quiogue T, Seibert DJ, Hopper KD, Gleason MM (1994) Pediatric radiology case of the day. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Roentgenol 162:1470-1475
7. Byard RW, Schliebs J, Koszyca BA (2001) Osler-Weber-Rendu syndrome - pathological manifestations and autopsy considerations. J Forensic Sci 46:698-701
8. Chen L, Lang S, Hu T, Zhong L, Li J (2002) Hereditary hemorrhagic telangiectasia: a rare cause of long-lasting abdominal distension in an 8-year-old boy. Chin Med J 115:620-621
9. Cos LR, Rabinowitz R, Bryson MF, Turula J, Valvo JR (1982) Hereditary hemorrhagic telangiectasia of bladder in a child. Urology 20:302-304
10. Coubes P, Humbertclaude V, Rodesch G, Lasjaunias P, Echenne B, Frerebeau P (1996) Total endovascular occlusion of a giant direct arteriovenous fistula in the posterior fossa in a case of Rendu-Osier-Weber disease. Child Nerv Syst 12:785-788
11. Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr., Dunn J, Letarte M (2000) Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res 47:24-35
12. Cynamon HA, Milov DE, Andres JM (1988) Multiple telangiectases of the colon in childhood. J Pediatr 112:928-930
13. De Cenzo JM, Morrisseau PM, Marrocco G (1975) Osler-Weber-Rendu syndrome. Urologist's view. Urology 5:549-552
14. Dines DE, Arms RA, Bernatz PE, Gomes MR (1974) Pulmonary arteriovenous fistulas. Mayo Clin Proc 49:460-465
15. Ference BA, Shannon TM, White RI (1994) Life-threatening pulmonary hemorrhage with arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 106:1387-1390
16. Folz BJ, Cerra Wollstein A, Alfke H, Dünne AA, Lippert BM, Görg K, Wagner HJ, Bien S, Werner JA (2004) The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: A diagnostic study. Eur Arch Otorhinolaryngol 261:509-516
17. Folz BJ, Cerra Wollstein A, Lippert BM, Werner JA (2005) Morphology and distribution of nasal telangiectasia in HHT patients with epistaxis. Am J Rhinol 19:65-70
18. Folz BJ, Tennie J, Lippert BM, Werner JA (2005) Natural history and control of epistaxis in a group of German patients with Rendu-Osler-Weber disease. Rhinology 43:40-46
19. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA (2004) A combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363:852-859
20. Garcia Callejo FJ, Velert Vila MM, Marco Algarra J (1998) Recurrent epistaxis in children as an indicator of hemostatic disorders. An Esp Pediatr 49:475-480
21. Garcia-Monaco R, Taylor W, Rodesch G, Alvarez H, Burrows P, Coubes P, Lasjaunias P (1995) Pial arteriovenous fistula in children as presenting manifestation of Rendu-Osler-Weber disease. Neuroradiology 37:60-64
22. Guttmacher AE, Marchuck DA, White RI Jr. (1995) Hereditary haemorrhagic telangiectasia. N Engl J Med 333:918-924
23. Haitjema T, Balder W, Disch FJ, Westermann CJ (1996) Epistaxis in hereditary haemorrhagic telangiectasia. Rhinology 34:176-178
24. Higgins CB, Wexler L (1976) Clinical and angiographic features of pulmonary arteriovenous fistulas in children. Radiology 119:171-175
25. Hodgson CH, Burchell HB, Good CA, Clagett OT (1959) Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula. Survey of a large family. New Engl J Med 261:625-636
26. Iddan G, Meron G, Glukhovsky A, Swain P (2000) Wireless capsule endoscopy. Nature 405:417
27. Iqbal M, Rossoff LJ, Steinberg HN, Marzouk KA, Siegel DN (2000) Pulmonary arteriovenous malformations: a clinical review. Postgrad Med J 76:390-394
28. John PR (1992) Early childhood presentation of neurovascular disease in hereditary haemorrhagic telangiectasia. Pediatr Radiol 22:140-141
29. Kirchner J, Zipf A, Dietrich CF, Hohmann A, Heyd R, Berkefeld J (1996) Universeller Organbefall bei Morbus RenduOsler-Weber: interdisziplinäre Diagnostik und interventionelle Therapie. Z Gastroenterol 34:747-752
30. Kitchens CS, Lottenberg R (1976) Chronic painless hematuria and urethral bleeding as the presenting manifestations of Osler-Weber-Rendu disease. J Urol 116:681-682
31. Kjeldsen AD, Kjeldsen J (2000) Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 95:415-418
32. Kristensen K (1989) Pulmonal arteriovenos fistel hos et nyfødt barn med hereditaer teleangiektasi. Ugeskr Laeger 151:1001-1002
33. Mager JJ, Westermann CJ (2000) Value of capillary microscopy in the diagnosis of hereditary hemorrhagic telangiectasia. Arch Dermatol 136:732-734
34. Maher CO, Piepgras DG, Brown RD Jr, Friedmann JA, Pollock BE (2001) Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 32:877-882
35. Mandzia JL, ter Brugge KG, Faughnan ME, Hyland RH (1999) Spinal cord arteriovenous malformations in two patients with hereditary hemorrhagic telangiectasia. Childs Nerv Syst 15:80-83
36. Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME (2000) Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 21:1016-1020
37. Merry GS, Appleton DB (1976) Spinal arterial malformation in a child with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg 44:613-616
38. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M (2002) Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics 109:E12
39. Olah A, Carrel T, Pasic M, Niederhauser U, Luthy A, Turina M (1991) Zur Operationsindikation der pulmonalen AV-Fisteln beim M. Osier. Helv Chir Acta 68:539-542
40. Olguntürk, R, Oguz D, Tunaoglu S, Ikizler C, Sezgin A, Kula S (2001) Pulmonary arteriovenous fistula in the newborn. A case report of Rendu-Osler-Weber syndrome and a review of the literature. Turk J Pediatr 43:332-337
41. Pasche B, Cerra Wollstein A, Zoll B, Folz B (2003) Rendu-Osler-Weber- Syndrom. Dtsch Arztbl 100:A490-493
42. Plauchu H, de Chadarevian P, Bideau A, Robert M (1989) Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 32:291-297
43. Reyes-Mujica M, Lopez-Corella E, Perez-Fernandez L, Cuevas-Schacht F, Carrillo-Farga J (1988) Osler-Weber-Rendu disease in an infant. Hum Pathol 19:1243-1246
44. Roy C, Noseda G, Arzimanoglou A, Harpey JP, Binet MH, Vaur C, Caille B (1990) Maladie de Rendu-Osier révélée par la rupture d'un anévrysme artériel cérébral chez un nourrisson. Arch Fr Pediatr 47:741-742
45. Sawyer SM, Menahem S, Chow CW, Robertson CF (1992) Progressive cyanosis in a child with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Pediatr Pulmonol 13:124-127
46. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ, Kjeldsen AD, Plauchu H (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66-67
47. ter Berg JW, Dippel DW, Habbema JD, Westermann CJJ, Tulleken CAF, Willemse J (1993) Unruptured intracranial arteriovenous malformations with hereditary haemorrhagic telangiectasia. Neurosurgical treatment or not? Acta Neurochir (Wien) 121:34-42
48. Terry PB, Barth KH, Kaufman SL, White RI Jr. (1980) Balloon embolization for treatment of pulmonary arteriovenous fistulas. N Engl J Med 302:1189-1190
49. Tsianakas P, Teillac-Hamel D, Fraitag S, De Prost Y, Prost C (1995) Etude ultrastructurale des télangiectases héréditaires bénignes. Ann Dermatol Vénéréol 122:517-520
50. Urushihara M, Furukawa S, Ota A, Iwai A, Matsumura K, Hamada Y (2000) Hemorrhagic telangiectasia with thrombocytopenia in a newborn infant. Pediatr Int 42:693-695
51. Vase P, Grove O (1986) Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 91:1079-1083
52. Willemse RB, Mager JJ, Westermann CJ, Overtoom TTC, Mauser H, Wolbers JG (2000) Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 92:779-784
53. Willinsky RA, Lasjaunias P, Terbrugge K, Burrows P (1990) Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 32:207-210
54. Werner JA, Lippert BM, Geisthoff UW, Rudert H (1997) Nd:YAG-Lasertherapie der rezidivierenden Epistaxis bei hereditärer hämorhagischer Telangiektasie. Laryngo Rhino Otol 76:495-501
55. White RI (1996) Pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: embolotherapy using balloons and coils. Arch Intern Med 9:2627-2628
56. Wingen M, Günther RW (2001) Transkatheterembolisation pulmonaler arterio-venöser Fisteln. Fortschr Röntgenstr 173:606-611
57. Ziani M, Valignat C, Lopez JG, Ruffion A, Plauchu H, Perrin P (2000) Renal arteriovenous malformation requiring surgery in Rendu-Osier-Weber disease (hereditary hemorrhagic telangiectasia). J Urol 164:1292-1293