Síndrome de malformação vascular retinocefálica congênita unilateral (síndrome de Wyburn-Mason ou síndrome de Bonnet-Dechaume-Blanc) - Relato de caso raro e revisão de literatura

A sindrome de Wyburn-Mason ou Bonnet-Dechaume-Blanc representa uma doenca neurocutânea congenita rara, nao hereditaria, do grupo das facomatoses, caracterizada por anormalidades vasculares ipsilaterais comprometendo a face, as vias da visao e o encefalo, nao sendo obrigatoria a existencia concomitante dos tres locais para a confirmacao diagnostica. Acredita-se que tal disturbio seja atribuido a um defeito de desenvolvimento do mesoderma primitivo vascular. Em 1937 e 1943, foram relatados na literatura os primeiros casos de pacientes com malformacoes vasculares unilaterais afetando o olho, o cerebro e a face, com tamanha riqueza de detalhes, que tal quadro sindromico passou a receber o nome dos autores responsaveis pelas publicacoes. A denominacao de malformacoes vasculares retinocefalicas unilaterais (MVR) foi utilizada primeiramente em 1974. A sindrome de Wyburn-Mason tipicamente se apresenta apos a terceira decada de vida e se manifesta de varias formas. As manifestacoes oculares sao as mais comuns, enquanto as manifestacoes cutâneas faciais podem nao ser encontradas. No presente trabalho, apresentamos um caso raro da sindrome de malformacao vascular retinocefalica unilateral em paciente adulta-jovem, do sexo feminino, submetida a resseccoes cirurgicas de lesoes retiniana e encefalica supratentoriais, ipsilaterais, em tempos diferentes, com outra lesao infratentorial, assintomatica, submetida a tratamento conservador ate o momento. O anatomopatologico das lesoes confirmou tratar-se de hemangioma cavernoso. Wyburn-Mason syndrome or Bonnet-Blanc-Dechaume syndrome represents a rare congenital neurocutaneous disease, nonhereditary group of phakomatoses characterized by vascular abnormalities affecting the ipsilateral face, the vision?s pathways and brain, was not mandatory the coexistence of three locations to confirm the diagnosis. It is believed that the disorder is attributed to a defect in development of primitive vascular mesoderm. In 1937 and 1943, cases reported of patients with unilateral vascular disease affecting the eye, brain and face, with such wealth of detail, such as syndrome started to receive the name of those authors in the literature. The name of unilateral retinocephalic vascular malformation syndrome (MVR) was primarily used by in 1974. The Wyburn-Mason syndrome typically presents after the third decade of life and manifests itself in many ways. Ocular manifestations are the most common, while the facial skin manifestations cannot be found. In this paper, we present a rare case of unilateral retinocephalic vascular malformation syndrome in an adult woman, who underwent surgical resection of brain injuries and retinal supratentorial ipsilateral lesion at different times, with another infratentorial lesion, asymptomatic and underwent conservative treatment for a while. The pathology of the lesions confirmed cavernous hemangioma.