Bonnet-Dechaume-Blanc syndrome

Bonnet-Dechaume-Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congenital condition characterized by arteriovenous malformations (AVMs) affecting the retina, the midbrain, and the facial structures. This syndrome is a nonhereditary disorder, meaning it does not follow a genetic inheritance pattern. The exact cause of Bonnet-Dechaume-Blanc syndrome remains unknown, and its occurrence is sporadic, with no gender or racial predilection.

Symptoms and Diagnosis

The symptoms of Bonnet-Dechaume-Blanc syndrome vary widely among affected individuals, depending on the location and size of the arteriovenous malformations. Common symptoms include visual impairments, headaches, seizures, and neurological deficits. The presence of a retinal AVM is a hallmark of the syndrome and is crucial for diagnosis. Diagnosis is primarily based on clinical evaluation and imaging studies, including Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans, which can reveal the extent and location of the AVMs.

Treatment

Treatment of Bonnet-Dechaume-Blanc syndrome is symptomatic and tailored to the individual's specific needs. Management may include laser therapy for retinal AVMs, surgical intervention for accessible cerebral AVMs, and embolization to reduce the risk of hemorrhage. Due to the complexity of the condition, a multidisciplinary approach involving ophthalmologists, neurologists, and neurosurgeons is often necessary.

Prognosis

The prognosis for individuals with Bonnet-Dechaume-Blanc syndrome varies. The risk of life-threatening complications, such as intracranial hemorrhage, increases with the size and number of AVMs. Early detection and management of the malformations can improve the quality of life and reduce the risk of severe complications.

Epidemiology

Bonnet-Dechaume-Blanc syndrome is extremely rare, with only a few hundred cases reported in the medical literature. The syndrome can affect individuals of any age, but symptoms often first appear in childhood or early adulthood.

History

The syndrome was first described in 1937 by Bonnet, Dechaume, and Blanc, after whom it is named. They reported the case of a patient with a unique combination of retinal and cerebral arteriovenous malformations. In 1943, Wyburn-Mason further detailed the condition, leading to its alternative name, Wyburn-Mason syndrome.