Bonnet-Dechaume-Blanc syndrome

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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. The special name for wyburn mason's syndrome is called congenital retinocephalofacial vascular malformation syndrome" ("CRC syndrome"). 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

retinal arteriovenous malformation
Fundus appearance of a typical retinal arteriovenous malformation(bag of worms).Picture courtesy by Singh AD Et Al [5]

Classification

  • Arteriovenous malformations(AVM) may be classified according to Archer et al. into 3 groups:[6]
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

Pathophysiology

Microscopic Pathology

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

Prognosis

Differentiating Bonnet-Dechaume-Blanc syndrome from other Diseases

Epidemiology and Demographics

AVMs of the whole retina
Fundus picture of left eye with extended AVMs of the whole retina. The small arrows mean a slight increase of vascular loops. Case courtesy D Schmidt Et Al [18]
Macular ischemia and extensive arteriovenous communications and dilated intertwined vessels. Case courtesy by Dimitrios A Karagiannis[19]

Incidence

  • Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.[20]
  • The incidence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Prevalence

  • The prevalence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Age

Race

  • There is no racial predilection to Bonnet-Dechaume-Blanc syndrome.[21]

Gender

  • Bonnet-Dechaume-Blanc syndrome affects men and women equally.[22]

History and Symptoms

Common Symptoms

Less Common Symptoms

Physical Examination

Appearance of the Patient

  • Patients with Bonnet-Dechaume-Blanc syndrome usually appear normal.
Spontaneous development of macular ischemia in a case of racemose hemangioma
Retinal racemose angioma. Case courtesy by Dimitrios A Karagiannis[31]

HEENT

Digital subtraction angiography (DSA)
Digital subtraction angiography (DSA) of the left internal carotid artery: arterial phase (a, b) demonstrating the nidus of the arteriovenous malformation located around the chiasm (arrows) and behind the globe (arrowhead). In c venous drainage of the arteriovenous malformation and chorioretinal blush (open arrow). Case courtesy by D Schmidt Et Al[49]


Lungs

Based on the locations of arteriovenous malformations(AVM), Bonnet-Dechaume-Blanc syndrome patients may present with:

Neuromuscular

Diagnosis

Diagnostic Study of Choice

Fundus photographs , fluorescein angiographic (FA) image, and enhanced depth imaging optical coherence tomographic (EDI- OCT)
Fundus photographs , fluorescein angiographic (FA) image, and enhanced depth imaging optical coherence tomographic (EDI- OCT) images. A:Markedly dilated tortuous vascular loops. The optic disc is obscured by very large vascular loops. Numerous anastomosing vessels make it difficult to separate the arterial and venous components. B: Fluorescein angiography in early phase shows fluorescein throughout the vascular loops without an intervening capillary bed and leakage from the loops, indicating a direct arteriovenous communication. Red arrow indicates the fovea (center of the foveal avascular zone), and green arrows indicate the direction of the OCT scans in ‘E’ and ‘F’. C:The vascular loops in some areas are less dilated and tortuous than in the left eye (see ‘A’). D-F: EDI-OCT images in the healthy right eye (D) and the affected left eye (E, F). Choroidal thickness of the left eye is thicker than that of the fellow eye. ‘E’ indicates a horizontal scan, and ‘D’ and ‘F’ indicate vertical scans through the fovea.(E, F) demonstrate retinal edema with cystic changes and oval-shaped lesions corresponding to cross sections of abnormal retinal vessels. White arrow indicates cystoid macular edema (F). Case courtesy by Akiko Iwata et Al.[50]

Other Diagnostic Studies

CT scan

MRI

  • Temporal arachnoidal cyst
    MRI showing a temporal arachnoidal cysttemporal arachnoidal cyst (short arrow in a, b), the enlarged retrobulbar vessels (long arrow in d), and retinal AVM (arrow head in e). MR-angiography in coronal view showing the chiasmal and hypothalamic network of the arterio-venous nidus (long arrow in c). Case courtesy by D Schmidt Et Al [57]
    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:[58][59][60]

Treatment

Medical Therapy

Interventions

Surgery

  • Surgery is not the first-line treatment option for patients with Bonnet-Dechaume-Blanc syndrome.
  • In patients with Bonnet-Dechaume-Blanc syndrome the options are as follows
  • Endovascular embolization
  • Surgical resection, or a combination are the choices for the patients to manage AVMs.

References

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