Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)

European Journal of Medical Research

M Schumacher²  H Agostini¹  D Schmidt¹ 

[1] Department of Ophthalmology, University Freiburg, Germany;Department of Neuroradiology, University Freiburg, Germany

关键词: aplasia of the temporal lobe;    hiatal hernia;    atrial septum defect;    intracranial arteriovenous malformation;    Bonnet-Dechaume-Blanc syndrome;    Wyburn-Mason syndrome;    Congenital arteriovenous retinal malformation;   

Others  :  1093323
DOI  :  10.1186/2047-783X-15-2-88

 received in 2009-11-04, accepted in 2009-11-11,  发布年份 2010

【 摘 要 】

Purpose

Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome.

Methods

MRI and cerebral angiography.

Results

In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described.

Conclusion

Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods.

【 授权许可】

   
2010 I. Holzapfel Publishers

【 图 表 】

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【 参考文献 】

• [1]Archer DB, Deutman A, Ernest JT, Krill AE: Arteriovenous communications of the retina. Am J Ophthalmol 1973, 75:224-241.
• [2]Bhattacharya JJ, Luo CB, Suh DC, Alvarez H, Rodesch G, Lasjaunias R: Wyburn-Mason or Bonnet-Dechaume-Blanc as cerebrofacial arteriovenous metameric syndromes (CAMS). A new concept and a new classification. Intervent Neuroradiol 2001, 7:5-17.
• [3]Bonnet P, Dechaume J, Blanc E: L'anévrysme cirsoïde de la face et avec l'anévrysme cirsoïde du cerveau. J Méd Lyon 1937, 18:165-178.
• [4]Brodsky MC, Hoyt WF: Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. Br J Ophthalmol 2002, 86:360-361.
• [5]Cameron ME: Congenital arterio-venous aneurysm of the retina. Br J Ophthalmol 1958, 42:655-666.
• [6]Mansour AM, Wells CG, Jampol LM, Kalina RE: Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol 1989, 107:232-236.
• [7]Picard L, Andre JM, Roland J, Arnould G: Angiomatose myélencéphalo-occipitale. Forme postérieure du syndrome de Bonnet, Dechaume et Blanc. Ann Radiol 1973, 16:499-505.
• [8]Schmidt D, Pache M, Schumacher M: The congenital unilateral retinocephalic vascular malformation syndrome (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome): review of the literature. Surv Ophthalmol 2008, 53:227-249.
• [9]von Winning CHOM: Haemangiomas of the fundus. Doc Ophthalmol 1976, 40:361-381.
• [10]Wyburn-Mason R: Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain 1943, 66:163-202.