RESUMO
INTRODUCTION: Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi. METHODS: We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973. RESULTS: In this review, we report on a 4(1/2)-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome. CONCLUSION: The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation.
Assuntos
Angiografia Cerebral , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Síndromes Neurocutâneas/congênito , Artéria Oftálmica/anormalidades , Órbita/irrigação sanguínea , Artéria Retiniana/anormalidades , Tálamo/irrigação sanguínea , Malformações Arteriovenosas/diagnóstico por imagem , Pré-Escolar , Embolização Terapêutica , Humanos , Malformações Arteriovenosas Intracranianas/terapia , Síndromes Neurocutâneas/diagnóstico por imagem , Artéria Oftálmica/diagnóstico por imagem , Artéria Retiniana/diagnóstico por imagem , Ruptura Espontânea , Síndrome , VentriculostomiaRESUMO
It has been proposed that, in animals, a retinohypothalamic pathway exists which mediates the synchronization of the diurnal light-dark cycle with the central neural components regulating endogenous rhythms. There have been numerous anatomic, physiologic and behavioral investigations to substantiate this proposed connection in experimental animals. Morphologic investigation of a retinohypothalamic tract in man has awaited the development of a technique capable of axonal tracing in the human brain. The paraphenylenediamine method was applied to 7 post-mortem human brains. Degenerated axons were found in the suprachiasmatic nuclei of the hypothalamus in each of the 4 patients who had incurred prior optic nerve damage. The retinosuprachiasmatic pathway may be the anatomical substrate for the integration of retinal light information with endogenous rhythms in man.