Bonnet-Dechaume-Blanc syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Synonyms and keywords: Wyburn mason's syndrome; Retinoencephalofacial angiomatosis
Overview
Bonnet-Dechaume-Blanc syndrome or Wyburn mason's syndrome or Retinoencephalofacial angiomatosis is a rare arteriovenous malformation (AVMs) condition. In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.
Historical Perspective
- Bonnet-Dechaume-Blanc syndrome was first discovered by Magnus, in 1874.[1]
- In 1932, Yates and Payne was the first to discover retinal and cerebral arteriovenous malformation (AVMs) in patients with Bonnet-Dechaume-Blanc syndrome.[2]
- In 1937, Bonnet, Dechaume and Blanc was the first to discover arteriovenous malformations in face, retina, and brain.[3][4]
Pathophysiology
- The exact pathogenesis of Bonnet-Dechaume-Blanc syndrome is not completely understood.
- It is understood that Bonnet-Dechaume-Blanc syndrome may be caused by genetic factors but which are involved are difficult to say.
- It is understood that Bonnet-Dechaume-Blanc syndrome is also may be caused by anomaly in organogenesis.
- Origin of cells of the vessel walls in the cephalic region in the brain, and their migration may explain the connection between lesions looks alike but at different locations in the body.
- Vision loss in patients with Bonnet-Dechaume-Blanc syndrome can be due to retinal arteriovenous malformations(AVM) which are tend to be large and lead to obscuration of the visual centers in the eye.
- Vision loss in patients with Bonnet-Dechaume-Blanc syndrome can also be due to compression of retinal arteries by arteriovenous malformations(AVM)
- In gestational period of the fetus vascular dysgenesis of anterior plexus may occur and leads to AVMs.
- Large network of arteriovenous malformations(AVM) in an area look like "bag-of-worms" and are characterized by direct artery-to-vein communication devoid of capillaries that results in high pressure blood flow.
Causes
- The cause of Bonnet-Dechaume-Blanc syndrome has not been identified yet.
Genetic Causes
- Bonnet-Dechaume-Blanc syndrome may be is caused by a mutation in the genes.
Risk Factors
- There are no established risk factors for Bonnet-Dechaume-Blanc syndrome.
Natural History, Complications, and Prognosis
Natural History
- The symptoms of Bonnet-Dechaume-Blanc syndrome usually develop in the first decade of life, and start with symptoms such as visual-field abnormalities.
Complications
- Common complications of Bonnet-Dechaume-Blanc syndrome include:
- Seizures
- Hemiparesis
- Hydrocephalus
- Significantly decreased vision
Prognosis
- Maxillofacial or mandibular vessels involvement in Bonnet-Dechaume-Blanc syndrome patients may lead to excessive hemorrhages and associated with poor prognosis.
Differentiating Bonnet-Dechaume-Blanc syndrome from other Diseases
- Bonnet-Dechaume-Blanc syndrome must be differentiated from sturge-weber syndrome, congenital open-angle glaucoma, and von hippel-lindau disease.
Epidemiology and Demographics
Incidence
- Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.[5]
- The incidence of Bonnet-Dechaume-Blanc syndrome is unknown yet.
Prevalence
- The prevalence of Bonnet-Dechaume-Blanc syndrome is unknown yet.
Age
- Bonnet-Dechaume-Blanc syndrome is a congenital disorder.
Race
Gender
History and Symptoms
Common Symptoms
- Common symptoms of Bonnet-Dechaume-Blanc syndrome include:[8][9]
- Mental status changes
- Headaches
- Seizures
- Stroke
- Hemiparesis
- Visual-field abnormalities
- Papilledema
- Hydrocephalus
Less Common Symptoms
- Less common symptoms of Bonnet-Dechaume-Blanc syndrome include:
- Epistaxis
- Oral hemorrhages
Physical Examination
Appearance of the Patient
- Patients with Bonnet-Dechaume-Blanc syndrome usually appear normal.
HEENT
- Ophthalmoscopic exam may be abnormal with findings of retinal and vitreous hemorrhages, retinal detachment, venous occlusive disease, optic disc edema, or optic atrophy.[12][13][14][15][16]
- Racemose haemangioma.[17][18]
- Macular ischemia.[19]
- Proptosis[20]
- Blepharoptosis: Drooping of the upper eyelid
- Neck stiffness (nuchal rigidity)
Lungs
Based on the locations of arteriovenous malformations(AVM), Bonnet-Dechaume-Blanc syndrome patients may present with:
Neuromuscular
Diagnosis
Diagnostic Study of Choice
- Ophthalmoscopy is the gold standard test for the diagnosis of Bonnet-Dechaume-Blanc syndrome.
Stagining
- According to Archer et al. retinal arteriovenous malformations can be divided into 3 groups:
| Type 1 | Small arteriole-venule anastomoses | Hard to detect clinically |
| Type 2 | Direct artery-vein communication devoid capillary network | Edema and hemorrhage may occur |
| Type 3 | Dilated, tortuous retinal vessels | Severe visual impairment |
Other Diagnostic Studies
- Other diagnostic studies for Bonnet-Dechaume-Blanc syndrome include:
- Fluorescein angiography: Helps in identifying the small lesions
- Optical coherence tomography: Helps in identifying the changes in nerve fiber layer, macula, and retina
- Catheter angiography: Catheter angiography helps in identifying size, location, feeding arteries and draining veins in arteriovenous malformations(AVM)
CT scan
- Head CT scan may be helpful in the diagnosis of Bonnet-Dechaume-Blanc syndrome. Findings on CT scan suggestive of Bonnet-Dechaume-Blanc syndrome include:
- Intracranial arteriovenous malformations
MRI
- Head MRI scan may be helpful in the diagnosis of Bonnet-Dechaume-Blanc syndrome. Findings on MRI scan suggestive of Bonnet-Dechaume-Blanc syndrome include:
- Intracranial arteriovenous malformations
- Midbrain involvement
- Optic nerve, chiasm and thalamus involvement
Treatment
References
- ↑ Magnus, Hugo (1874). "Aneurysma arterioso-venosum retinale". Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin. 60 (1): 38–45. doi:10.1007/BF01938766. ISSN 0945-6317.
- ↑ Yates, A. Gurney; Paine, C. G. (1930). "A CASE OF ARTERIOVENOUS ANEURYSM WITHIN THE BRAIN". Brain. 53 (1): 38–46. doi:10.1093/brain/53.1.38. ISSN 0006-8950.
- ↑ Bhattacharya, J.J.; Luo, C.B.; Suh, D.C.; Alvarez, H.; Rodesch, G.; Lasjaunias, P. (2016). "Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS)". Interventional Neuroradiology. 7 (1): 5–17. doi:10.1177/159101990100700101. ISSN 1591-0199.
- ↑ Wyburn-Mason, R. (1943). "ARTERIOVENOUS ANEURYSM OF MID-BRAIN AND RETINA, FACIAL NÆVI AND MENTAL CHANGES". Brain. 66 (3): 163–203. doi:10.1093/brain/66.3.163. ISSN 0006-8950.
- ↑ So JM, Holman RE. PMID 29630270. Missing or empty
|title=(help) - ↑ So JM, Holman RE. PMID 29630270. Missing or empty
|title=(help) - ↑ So JM, Holman RE. PMID 29630270. Missing or empty
|title=(help) - ↑ Lester, J. (2005). "Wyburn-Mason Syndrome". Journal of Neuroimaging. 15 (3): 284–285. doi:10.1111/j.1552-6569.2005.tb00324.x. ISSN 1051-2284.
- ↑ Schmidt, Dieter; Pache, Mona; Schumacher, Martin (2008). "The Congenital Unilateral Retinocephalic Vascular Malformation Syndrome (Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome): Review of the Literature". Survey of Ophthalmology. 53 (3): 227–249. doi:10.1016/j.survophthal.2007.10.001. ISSN 0039-6257.
- ↑ "Spontaneous development of macular ischemia in a case of racemose hemangioma".
- ↑ "Spontaneous development of macular ischemia in a case of racemose hemangioma".
- ↑ Bloom, P. A; Laidlaw, A.; Easty, D. L (1993). "Spontaneous development of retinal ischaemia and rubeosis in eyes with retinal racemose angioma". British Journal of Ophthalmology. 77 (2): 124–125. doi:10.1136/bjo.77.2.124. ISSN 0007-1161.
- ↑ Reck SD, Zacks DN, Eibschitz-Tsimhoni M (September 2005). "Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome". J Neuroophthalmol. 25 (3): 205–8. PMID 16148629.
- ↑ Medina FM, Maia OO, Takahashi WY (2010). "Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report". Arq Bras Oftalmol. 73 (1): 88–91. PMID 20464122.
- ↑ Schmidt D, Pache M, Schumacher M (2008). "The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature". Surv Ophthalmol. 53 (3): 227–49. doi:10.1016/j.survophthal.2007.10.001. PMID 18501269.
- ↑ Singh AD, Rundle PA, Rennie I (March 2005). "Retinal vascular tumors". Ophthalmol Clin North Am. 18 (1): 167–76, x. doi:10.1016/j.ohc.2004.07.005. PMID 15763202.
- ↑ Meyer, Carsten H.; Rodrigues, Eduardo B.; Mennel, Stefan; Klingmüller, Volker; Kroll, Peter (2007). "Functional and anatomical investigations in racemose haemangioma". Acta Ophthalmologica Scandinavica. 85 (7): 764–771. doi:10.1111/j.1600-0420.2007.00911.x. ISSN 1395-3907.
- ↑ Augsburger JJ, Goldberg RE, Shields JA, Mulberger RD, Magargal LE (1980). "Changing appearance of retinal arteriovenous malformation". Albrecht Von Graefes Arch Klin Exp Ophthalmol. 215 (1): 65–70.
- ↑ Karagiannis, Dimitrios; Panagiotidis, Dimitrios; Tsoubris, Ioannis; Theodossiadis, Panagiotis (2011). "Spontaneous development of macular ischemia in a case of racemose hemangioma". Clinical Ophthalmology: 931. doi:10.2147/OPTH.S21925. ISSN 1177-5483.
- ↑ Fujita H, Nakano K, Kumon Y, Inoue H, Sakaki S (August 1989). "[A case of Wyburn-Mason syndrome]". Rinsho Shinkeigaku (in Japanese). 29 (8): 1039–44. PMID 2598528.