(Bonnet-Dechaume-Blanc syndrome, CAMS 2, retino-encephalo-facial angiomatosis)

Prevalence < 1.106. Sporadic non-hereditary congenital angiomatosis. Association of arteriovenous malformations in the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. Neither the etiology nor the risk factors of this anomaly organogenesis are known. The link between those vascular malformations in different locations, lies in the embryological origin of the cells of the vascular walls in the cephalic region and their migration. The endothelial cells n the facial, orbital, maxillary or mandibular and cerebral territories originate from the neural crest cells in three large embryonic areas. A defect present in a cellular group before migration of the neural crest cells to their final territory is likely to disseminate vascular lesions alongside the pathway of migration, causing various segmental or metameric cerebrofacial syndromes (CAMS) (see this term) according to the region of origin of the cells:

-        CAMS 1: corpus callosum, hypothalamus, olfactory tract, forehead, nose

-        Wyburn-Mason syndrome or CAMS 2: cortex and diencephalon, chiasma, optic nerve, retina, sphenoid bone, maxilla, cheek.

-        CAMS 3: cerebellum, temporal cortex, mandibula.

The malformations appear successively, sometimes over several decades. The neurologic symptoms reflect cerebral suffering due to venous congestion or bleeding. In children, psychomotor delay in children is not frequent.

The malformations can cause neurological clinical signs such as:

-        focused progressive neurological deficits depending on the territory where arteriovenous malformation is located,

-        epilepsy

-        headache.

Depending on the location of the other lesions, some other clinical signs can also be observed:

-        at the maxillofacial level: asymmetry or deformation of the face, alterations of the growth of the maxillofacial bones

-        in case of maxillomandibular intra-osseous locations: serious oral bleeding.

-        visual symptoms resulting from arteriovenous malformations of the retina, depending on the size and location of the malformations (retina, optic nerve and chiasma).

Anesthetic implications:

depending on the location of the arteriovenous malformations; in case of cerebral localization, avoid high blood pressure and maintain  normoventilation; gentle laryngoscopy in case of maxillary or mandibular lesions.

References : 

-         Lee AW, Chen CS, Gailloud P, Nyquist P.
Wyburn-Mason syndrome associated with thyroid arteriovenous malformation : a first case report.
Am J Neuroradiol 2007 ; 28 : 1153-4.

-        Kolomeyer AM, Laviolette R, Winter TW.
Wyburn-Mason syndrome. Ophthalmology 2016 ; 123 : 50

Updated: July 2019