Bonnet-Dechaume-Blanc syndrome

Classification according to ICD-10
Q14.1	Congenital malformation of the retina
Q28.2	Arteriovenous malformation of the cerebral vessels
ICD-10 online (WHO version 2019)

The Bonnet-Dechaume-Blanc syndrome , also Wyburn-Mason syndrome or congenital retinozephalofaziales vascular Malformations syndrome (CRC syndrome) is a rare syndrome , which by the occurrence of one-sided usually arteriovenous malformations (AVM) of the blood vessels of the Retina and intracranial blood vessels ( cerebral arteriovenous malformations ) as well as changes in the face.

Some authors class the syndrome as a neurocutaneous disease .

term

A review from 2008 evaluated the information from all case reports published in the specialist medical literature . The authors classified the following types of malformation:

Complete / typical congenital retinocephalofacial vascular malformation syndrome (CRC syndrome) or classic Bonnet-Dechaume-Blanc syndrome - arteriovenous malformations of the retina and cerebral vessels as well as involvement of the skin
Incomplete congenital retinocephalofacial vascular malformation syndrome - arteriovenous malformations of the retina and cerebral vessels
isolated retinal arteriovenous malformations - exclusively arteriovenous malformations of the retina
arteriovenous malformations of the retina and clinical neurological findings, but no neuroradiological imaging

Epidemiology

All forms of the syndrome are very rare. Up to 2009, 132 cases had been described, of which 27 had a complete CRC syndrome, 30 an incomplete CRC syndrome and 63 isolated retinal arteriovenous malformations. Another 12 cases were affected with malformations of the ocular vessels and presumed cerebral arteriovenous malformations, but without neuroradiological evidence. There are no gender-specific differences in frequency. The diagnosis is usually made in the second or third decade of life.

pathology

Arteriovenous malformations are shunts between the arterial and venous vasculature. The vessels, which are often arranged in the shape of a ball, thus also represent a connection between the high and low pressure systems . The pressure gradient results in increased blood flow and an expansion of the vessels. The vascular bed is subject to continuous remodeling. Damage to the vessel wall leads to complications such as vascular stenosis and rupture.

The arteriovenous malformations of both the retinal and cerebral vessels are based on a developmental disorder of unknown cause around the 7th week of pregnancy.

Clinical manifestations

Depending on the type of CRC syndrome, changes in the face, eyes and / or intracranial vessels result. Bleeding from the mouth and nosebleeds may also occur. Occasionally, life-threatening bleeding occurred during tooth extraction in those affected .

The changes usually occur on one side, and very rarely on both sides.

Facial changes

In patients with complete CRC syndrome, in addition to arteriovenous malformations of the retina and the cerebral vessels, various unilateral facial changes occur, including partially protruding vessels of the conjunctiva (conjunctiva), the cheeks and forehead as well as changes in the eyelid vessels. Occasionally, changes in the eyelids also occur in the area of the lips, ears and nose.

Eye changes

Changes in the eyes occur in incomplete CRC syndrome as well as in isolated retinal arteriovenous malformations. Almost half of the patients described are blind on the affected side of the body . Other complications of retinal arteriovenous malformations include secondary glaucoma and, less commonly, optic atrophy . Retinal and vitreous hemorrhages have been reported. Cerebral AVM can lead to eye motility disorders such as exotropia (outward squint ) and nystagma . In about two thirds of those affected, arteriovenous malformations are detected in the eye socket (orbit), which, in addition to cerebral vascular malformations, often lead to a unilateral exophthalmos and are sometimes connected to intracranial AVM. The involvement of vessels in the eye socket can also lead to impairment of the optic nerve (N. opticus) .

Intracranial vascular changes

Arteriovenous malformations of the brain vessels occur in complete and incomplete CRC syndrome. They occur particularly in the supply area of the arteria cerebri media (ACM), in the supply area of the arteria cerebri anterior and posterior they occur less frequently. In about a third of the described victims, the vascular changes were found in the cerebral part of the visual pathway .

The vascular changes can remain asymptomatic throughout life. The most common complications are various forms of cerebral hemorrhage , especially intracerebral hemorrhage (ICB) but also subarachnoid hemorrhage (SAB). Occasionally, the vascular malformations can also express themselves in symptomatic epilepsy or increased intracranial pressure .

Several cases of Bonnet-Dechaume-Blanc syndrome have been described in which facial nerve palsy (facial nerve palsy) occurred.

Investigation methods

If a CRC syndrome is suspected, a neurological examination and ophthalmological diagnostics ( ophthalmoscopy , perimetry ) are carried out. Magnetic resonance imaging (MRT), computed tomography (CT) and digital subtraction angiography (DSA) are used for radiological visualization of arteriovenous malformations .

treatment

Arteriovenous malformations can - after assessing the risk of bleeding - be treated with microsurgical resection or embolization . Laser coagulation may be indicated for secondary changes in the retina as a result of CRC syndrome .

history

Numerous case reports, including one by Hugo Spatz wrote work of 1874 and Arthur Cross report 'from 1903, described aspects of the syndrome. Extensive case reports, including that of Ernst Krug and Bernard Samuels (1932), who described all components of the syndrome - arteriovenous malformations of the retina, the cerebral vessels and the facial skin - date from the 1930s. The eponymous case report for the Bonnet-Dechaume-Blanc syndrome was published in 1937 by Paul Bonnet, Jean Dechaume and Emile Blanc, the Roger Wyburn-Masons report from 1943 coined the term Wyburn-Mason syndrome .

literature

D. Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome In: The Ophthalmologist. Journal of the German Ophthalmological Society. [Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome] . In: Der Ophthalmologe: Journal of the German Ophthalmological Society . tape 106 , no. 1 , January 2009, ISSN 1433-0423 , p. 61-68; quiz 69 , doi : 10.1007 / s00347-008-1893-x , PMID 19159963 .
Dieter Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature . In: Survey of Ophthalmology . tape 53 , no. 3 , 2008, ISSN 0039-6257 , p. 227-249 , doi : 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 .

Individual evidence

↑ Andrew J. Larner, Alasdair J. Coles, Neil J. Scolding, Roger A. Barker: AZ of Neurological Practice. A Guide to Clinical Neurology. 2nd Edition. Springer, Dordrecht 2011, ISBN 978-1-84882-993-0 , p. 805.
↑ ^a ^b Scott M. Steidl, Mary Elizabeth Hartnett: Clinical Pathways in Vitreoretinal Disease. Thieme, Stuttgart et al. 2002, ISBN 3-13-125811-X , p. 194.
↑ ^a ^b Dieter Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 229 ff.
↑ ^a ^b Dieter Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome In: The Ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 63.
^ Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 236.
^ Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 242 f.
^ Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 64.
^ ^A ^b Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, ISSN 1433-0423 doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 65.
^ ^A ^b Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 67.
^ Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol 106, No. 1, 2009.. Doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p.66.
^ Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 234.
↑ ^a ^b German Society for Neurology - Guideline Cerebral Arteriovenous Malformations of 2008. In: AWMF online
^ Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 227 f.
^ P. Bonnet, J. Dechaume, E. Blanc: L'anévrysme cirsoïde de la rétine (anévrysme racémeux). Ses relations avec l'anévrysme cirsoïde de la face et avec l'anévrysme cirsoïde du cerveau. In: Le Journal de médecine de Lyon. Vol. 18, 1937, ZDB -ID 218336-5 , pp. 165-178.
^ R. Wyburn-Mason: Arteriovenous aneurysm of mid-brain and retina, facial nævi and mental changes. In: Brain . Vol. 66, No. 3, 1943, pp. 163-203, doi: 10.1093 / brain / 66.3.163 .

[1] Andrew J. Larner, Alasdair J. Coles, Neil J. Scolding, Roger A. Barker: AZ of Neurological Practice. A Guide to Clinical Neurology. 2nd Edition. Springer, Dordrecht 2011, ISBN 978-1-84882-993-0 , p. 805.

[scott-2] Scott M. Steidl, Mary Elizabeth Hartnett: Clinical Pathways in Vitreoretinal Disease. Thieme, Stuttgart et al. 2002, ISBN 3-13-125811-X , p. 194.

[schmidt2008229-3] Dieter Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 229 ff.

[schmidt2009-4] Dieter Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome In: The Ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 63.

[5] Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 236.

[6] Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 242 f.

[7] Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 64.

[schmidt200965-8] A ^b Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, ISSN 1433-0423 doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 65.

[schmidt200967-9] A ^b Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol. 106, No. 1, 2009, doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p. 67.

[10] Daniel Schmidt: The congenital retinocephalofacial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. In: The ophthalmologist. Journal of the German Ophthalmological Society. Vol 106, No. 1, 2009.. Doi: 10.1007 / s00347-008-1893-x , PMID 19159963 , p.66.

[11] Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 234.

[awmf-12] German Society for Neurology - Guideline Cerebral Arteriovenous Malformations of 2008. In: AWMF online

[13] Daniel Schmidt, Mona Pache, Martin Schumacher: The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. In: Survey of ophthalmology. Vol. 53, No. 3, 2008, doi: 10.1016 / j.survophthal.2007.10.001 , PMID 18501269 , p. 227 f.

[14] P. Bonnet, J. Dechaume, E. Blanc: L'anévrysme cirsoïde de la rétine (anévrysme racémeux). Ses relations avec l'anévrysme cirsoïde de la face et avec l'anévrysme cirsoïde du cerveau. In: Le Journal de médecine de Lyon. Vol. 18, 1937, ZDB -ID 218336-5 , pp. 165-178.

[15] R. Wyburn-Mason: Arteriovenous aneurysm of mid-brain and retina, facial nævi and mental changes. In: Brain . Vol. 66, No. 3, 1943, pp. 163-203, doi: 10.1093 / brain / 66.3.163 .