Bonnet–Dechaume–Blanc syndrome
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Bonnet–Dechaume–Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congenital disorder characterized by arteriovenous malformations of the brain, retina or facial nevi.[1] The syndrome has a number of possible symptoms and can, more rarely, affect the skin, bones, kidneys, muscles, and gastrointestinal tract.[2] When the syndrome affects the brain, people can experience severe headaches, seizures, acute stroke, meningism, and progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting.[2][3]
Bonnet–Dechaume–Blanc syndrome | |
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Other names | Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes, Cerebrofacial arteriovenous metameric syndrome type 2 |
CT scan showing intracranial hemorrhage | |
Specialty | Medical genetics |
In the retina, the syndrome causes retinocephalic vascular malformations that tend to be present with intracranial hemorrhage and lead to decreased visual acuity, proptosis, pupillary defects, optic atrophy, congestion of bulbar conjunctiva, and visual field defects.[4][5] Retinal lesions can be unilateral and tortuous, and symptoms begin to appear in the second and third decades of life.[4]
The syndrome can present with cutaneous lesions, or skin with different texture, thickness, and color, usually on the face.[5] The facial features caused by the syndrome vary from slight discoloration to extensive nevi and angiomas of the skin.[3] In some cases, the frontal and maxillary sinus may also be affected.[5]
There have only been 52 reported cases of patients with Bonnet–Dechaume–Blanc syndrome as of 2012.[2] Symptoms are rarely noticed in children and the syndrome is often diagnosed in late childhood or early adulthood when visual impairment is noticed.[3] Fluorescein angiography is commonly used to diagnose the syndrome.[6]
There have been several methods in treating patients with Bonnet–Dechaume–Blanc syndrome. However, the optimal treatment is uncertain. Patients with intracranial lesions have been treated with surgical intervention and in some cases, this procedure has been successful. Other treatments include embolization, radiation therapy, and continued observation.[5]
With limited research on Bonnet–Dechaume–Blanc syndrome, researchers have focused on the clinical and radiological findings rather than how to manage this rare and non-heritable syndrome.[3]