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)

Abstract

Abstract 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.

Keywords

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