Seizures Are Not a Prevalent Feature of Wyburn-Mason Syndrome

Abstract

Wyburn-Mason syndrome (WMS) is a widely recognized neurocutaneous syndrome in which the unilateral anterior venous malformation in its complete form is associated with eye, brain, and skin involvement. The term WMS also includes the incomplete form in which the patients show unilateral anterior venous malformation as a single anomaly not associated with other districts involvement. Neurologic complications are almost constantly reported in this syndrome. The aim of this report is to describe the neurologic course of two patients affected by the complete form of this very rare syndrome offering particular remarks whether convulsive episodes or epilepsy are leading features of this disorder. Based on the experience registered in the long follow-up in the present patients and in those reported in the literature, seizures and convulsive episodes are uncommon in WMS and, when present, mainly occur in consequence of acute or chronic disruptive events of the arteriovenous malformations.

Keywords

Wyburn-Mason syndrome - seizures - congenital vascular anomaly - neurocutaneous syndrome

• References

• 1 Wyburn-Mason R. Arterovenous aneurysm of midbrain and retina, facial naevi and mental changes. Brain 1943; 66 (3) 163-203
• 2 Bonnet P, Dechaume J, Blanc E. L'aneurysme cirsoide de la retine (aneurisme racemeux), ses relations avec l'aneurysme de la face et l'aneurysme circoide du cerveau. J Med Lyon 1937; 18: 165-178
• 3 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 (3) 227-249
• 4 Madey J, Lehman RK, Chaudry I, Vaillancourt SL. Teaching NeuroImages: atypical Wyburn-Mason syndrome. Neurology 2012; 79 (10) e84
• 5 Rasalkar DD, Paunipagar BK. Wyburn-Mason syndrome. Pediatr Radiol 2010; 40 (Suppl. 01) S122
• 6 Schmidt D, Agostini H, Schumacher M. 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). Eur J Med Res 2010; 15 (2) 89-91
• 7 Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. Neuroradiology 2007; 49 (5) 445-456
• 8 Rizzo R, Pavone L, Pero G, Chiaromonte I, Curatolo P. A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome. J Child Neurol 2004; 19 (11) 908-911
• 9 Luo CB, Lasjaunias P, Bhattacharya J. Craniofacial vascular malformations in Wyburn-Mason syndrome. J Chin Med Assoc 2006; 69 (12) 575-580
• 10 Patel U, Gupta SC. Wyburn-Mason syndrome. A case report and review of the literature. Neuroradiology 1990; 31 (6) 544-546
• 11 Lester J, Ruano-Calderón LA, González-Olhovich I. Wyburn-Mason syndrome. J Neuroimaging 2005; 15 (3) 284-285
• 12 Théron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology 1974; 7 (4) 185-196
• 13 Mello LR, Detoni XA. Bonnet-Dechaume-Blanc syndrome. Report of a case with bilateral arteriovenous malformations. Acta Radiol Suppl 1976; 347: 187-192
• 14 Ward JB, Katz NN. Combined phakomatoses: a case report of Sturge-Weber and Wyburn-Mason syndrome occurring in the same individual. Ann Ophthalmol 1983; 15 (12) 1112-1116