Bonnet-Dechaume-Blanc syndrome: Difference between revisions

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== Epidemiology ==
== Epidemiology ==
== Diagnosis ==
== Diagnosis ==
Diagnosis commonly occurs later in childhood and often occurs incidentally in [[asymptomatic]] patients or as a cause of visual impairment.<ref name=":2">{{cite journal|last1=Kim|first1=Jeonghee|last2=Kim|first2=Ok Hwa|last3=Suh|first3=Jung Ho|last4=Lew|first4=Ho Min|title=Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations|journal=Pediatric Radiology|date=20 March 1998|volume=28|issue=3|pages=161–161|doi=10.1007/s002470050319}}</ref> The first symptoms are commonly found during routine vision screenings.
A number of examinations can be used to determine the extent of the syndrome and its severity. [[Fluorescein angiography]] is quite useful in diagnosing the disease, and the use of [[ultrasonography]] and [[optical coherence tomography]] (OCT) are helpful in confirming the disease.<ref name=":5">{{cite journal|last1=Singh|first1=ArunD|last2=Turell|first2=MaryE|title=Vascular tumors of the retina and choroid: Diagnosis and treatment|journal=Middle East African Journal of Ophthalmology|date=2010|volume=17|issue=3|pages=191|doi=10.4103/0974-9233.65486}}</ref> N[[Neuro-ophthalmology|euro-ophthalmic]] examinations reveal pupillary defects (see [[Marcus Gunn Pupil]]). Funduscopic examinations, examinations of the [[fundus]] of the eye, allow detection of arteriovenous malformations.<ref name=":0">{{cite journal|last1=SINGH|first1=A|last2=RUNDLE|first2=P|last3=RENNIE|first3=I|title=Retinal Vascular Tumors|journal=Ophthalmology Clinics of North America|date=March 2005|volume=18|issue=1|pages=167–176|doi=10.1016/j.ohc.2004.07.005|url=http://www.ophthalmology.theclinics.com/article/S0896-1549(04)00088-4/fulltext}}</ref> Neurological examinations can determine [[hemiparesis]] and [[paresthesias]].<ref name=":0" /> Malformations in arteriovenous connections and irregular functions in the veins may be distinguished by fluorescein angiographies. [[Cerebral angiography]] examinations may expose AVMs in the [[cerebrum]]. MRIs are also used in imaging the brain and can allow visualization of the optic nerve and any possible [[atrophy]]. MRI, CT, and cerebral angiography are all useful for investigating the extent and location of any vascular lesions that are affecting the brain.<ref name=":0" /><ref name=":3">{{cite journal|last1=Dayani|first1=P. N.|last2=Sadun|first2=A. A.|title=A case report of Wyburn-Mason syndrome and review of the literature|journal=Neuroradiology|date=18 January 2007|volume=49|issue=5|pages=445–456|doi=10.1007/s00234-006-0205-x}}</ref> This is helpful in determining the extent of the syndrome.
== Treatment ==
== Treatment ==


The treatment for Bonnet–Dechaume–Blanc syndrome is controversial due to a lack of consensus on the different therapeutic procedures for treating arteriovenous malformations.<ref name=":7">{{cite journal|last1=Schmidt|first1=D|last2=Pache|first2=M|last3=Schumacher|first3=M|title=The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature.|journal=Survey of ophthalmology|date=2008|volume=53|issue=3|pages=227–49|pmid=18501269}}</ref>  The first successful treatment was performed by Morgan et al.<ref name=":8">{{cite journal|last1=Bhattacharya|first1=JJ|last2=Luo|first2=CB|last3=Suh|first3=DC|last4=Alvarez|first4=H|last5=Rodesch|first5=G|last6=Lasjaunias|first6=P|title=Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A New Concept and a New Classification.|journal=Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences|date=30 March 2001|volume=7|issue=1|pages=5–17|pmid=20663326}}</ref> They combined intracranial resection, ligation of ophthalmic artery, and selective arterial ligature of the [[external carotid artery]], but the patient did not have retinal vascular malformations.<ref name=":6">{{cite journal|last1=Lester|first1=Jacobo|last2=Ruano-Calderon|first2=Luis Angel|last3=Gonzalez-Olhovich|first3=Irene|title=Wyburn-Mason Syndrome|journal=Journal of Neuroimaging|date=July 2005|volume=15|issue=3|pages=284–285|doi=10.1111/j.1552-6569.2005.tb00324.x}}</ref>
The treatment for Bonnet–Dechaume–Blanc syndrome is controversial due to a lack of consensus on the different therapeutic procedures for treating arteriovenous malformations.<ref name=":7">{{cite journal|last1=Schmidt|first1=D|last2=Pache|first2=M|last3=Schumacher|first3=M|title=The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature.|journal=Survey of ophthalmology|date=2008|volume=53|issue=3|pages=227–49|pmid=18501269}}</ref>  The first successful treatment was performed by Morgan et al.<ref name=":8">{{cite journal|last1=Bhattacharya|first1=JJ|last2=Luo|first2=CB|last3=Suh|first3=DC|last4=Alvarez|first4=H|last5=Rodesch|first5=G|last6=Lasjaunias|first6=P|title=Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A New Concept and a New Classification.|journal=Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences|date=30 March 2001|volume=7|issue=1|pages=5–17|pmid=20663326}}</ref> They combined intracranial resection, ligation of ophthalmic artery, and selective arterial ligature of the [[external carotid artery]], but the patient did not have retinal vascular malformations.<ref name=":6">{{cite journal|last1=Lester|first1=Jacobo|last2=Ruano-Calderon|first2=Luis Angel|last3=Gonzalez-Olhovich|first3=Irene|title=Wyburn-Mason Syndrome|journal=Journal of Neuroimaging|date=July 2005|volume=15|issue=3|pages=284–285|doi=10.1111/j.1552-6569.2005.tb00324.x}}</ref>


If lesions are present, they are watched closely for changes in size. Prognosis is best when lesions are less than 3&nbsp;cm in length. Most complications occur when the lesions are greater than 6&nbsp;cm in size.<ref name=":0" /> Surgical intervention for intracranial lesions has been done successfully. Nonsurgical treatments include [[embolization]], radiation therapy, and continued observation.<ref name=":3" /> Arterial vascular malformations may be treated with the [[cyberknife]] treatment. Possible treatment for cerebral arterial vascular malformations include stereotactic radiosurgery, endovascular embolization, and microsurgical resection.<ref name=":0" />
If lesions are present, they are watched closely for changes in size. Prognosis is best when lesions are less than 3&nbsp;cm in length. Most complications occur when the lesions are greater than 6&nbsp;cm in size.<ref name=":0">{{cite journal|last1=SINGH|first1=A|last2=RUNDLE|first2=P|last3=RENNIE|first3=I|title=Retinal Vascular Tumors|journal=Ophthalmology Clinics of North America|date=March 2005|volume=18|issue=1|pages=167–176|doi=10.1016/j.ohc.2004.07.005|url=http://www.ophthalmology.theclinics.com/article/S0896-1549(04)00088-4/fulltext}}</ref> Surgical intervention for intracranial lesions has been done successfully. Nonsurgical treatments include [[embolization]], radiation therapy, and continued observation.<ref name=":3">{{cite journal|last1=Dayani|first1=P. N.|last2=Sadun|first2=A. A.|title=A case report of Wyburn-Mason syndrome and review of the literature|journal=Neuroradiology|date=18 January 2007|volume=49|issue=5|pages=445–456|doi=10.1007/s00234-006-0205-x}}</ref> Arterial vascular malformations may be treated with the [[cyberknife]] treatment. Possible treatment for cerebral arterial vascular malformations include stereotactic radiosurgery, endovascular embolization, and microsurgical resection.<ref name=":0" />


When pursuing treatment, it is important to consider the size of the malformations, their locations, and the neurological involvement.<ref name=":6" /> Because it is a congenital disorder, there are not preventative steps to take aside from regular follow ups with a doctor to keep an eye on the symptoms so that future complications are avoided.
When pursuing treatment, it is important to consider the size of the malformations, their locations, and the neurological involvement.<ref name=":6" /> Because it is a congenital disorder, there are not preventative steps to take aside from regular follow ups with a doctor to keep an eye on the symptoms so that future complications are avoided.

Revision as of 17:13, 4 June 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and keywords: Wyburn mason's syndrome; Retinoencephalofacial angiomatosis

CT scan showing intracranial hemorrhage

Overview

.

Signs and symptoms

Causes

Mechanism

Epidemiology

Diagnosis

Treatment

The treatment for Bonnet–Dechaume–Blanc syndrome is controversial due to a lack of consensus on the different therapeutic procedures for treating arteriovenous malformations.[1] The first successful treatment was performed by Morgan et al.[2] They combined intracranial resection, ligation of ophthalmic artery, and selective arterial ligature of the external carotid artery, but the patient did not have retinal vascular malformations.[3]

If lesions are present, they are watched closely for changes in size. Prognosis is best when lesions are less than 3 cm in length. Most complications occur when the lesions are greater than 6 cm in size.[4] Surgical intervention for intracranial lesions has been done successfully. Nonsurgical treatments include embolization, radiation therapy, and continued observation.[5] Arterial vascular malformations may be treated with the cyberknife treatment. Possible treatment for cerebral arterial vascular malformations include stereotactic radiosurgery, endovascular embolization, and microsurgical resection.[4]

When pursuing treatment, it is important to consider the size of the malformations, their locations, and the neurological involvement.[3] Because it is a congenital disorder, there are not preventative steps to take aside from regular follow ups with a doctor to keep an eye on the symptoms so that future complications are avoided.

References

  1. 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". Survey of ophthalmology. 53 (3): 227–49. PMID 18501269.
  2. Bhattacharya, JJ; Luo, CB; Suh, DC; Alvarez, H; Rodesch, G; Lasjaunias, P (30 March 2001). "Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A New Concept and a New Classification". Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences. 7 (1): 5–17. PMID 20663326.
  3. 3.0 3.1 Lester, Jacobo; Ruano-Calderon, Luis Angel; Gonzalez-Olhovich, Irene (July 2005). "Wyburn-Mason Syndrome". Journal of Neuroimaging. 15 (3): 284–285. doi:10.1111/j.1552-6569.2005.tb00324.x.
  4. 4.0 4.1 SINGH, A; RUNDLE, P; RENNIE, I (March 2005). "Retinal Vascular Tumors". Ophthalmology Clinics of North America. 18 (1): 167–176. doi:10.1016/j.ohc.2004.07.005.
  5. Dayani, P. N.; Sadun, A. A. (18 January 2007). "A case report of Wyburn-Mason syndrome and review of the literature". Neuroradiology. 49 (5): 445–456. doi:10.1007/s00234-006-0205-x.