Cobb syndrome

What is Cobb? syndrome?

Cobb syndrome is a genetic disorder characterized by vascular injuries and neurological Deficits Also known as spinal arteriovenous metameric syndrome (SAMS) and cutaneous meningospinal angiomatosis.

Although first described by Berenbauch in 1890, the syndrome is most closely associated with Dr. Cobb's description of a clinical case in 1915.

Who gets Cobb syndrome?

Cobb syndrome is extremely rare.

• There are fewer than 100 cases reported in the literature, although researchers believe the disease may be underreported.
• Reported cases show that Cobb syndrome is slightly more common in men and Caucasians.
• The skin symptoms of Cobb syndrome appear at birth, and the neurological symptoms appear by the age of 5 years.
• Affected children have no family history of Cobb syndrome.

What causes Cobb syndrome?

The cause of Cobb syndrome is not completely understood. It is believed that somatic mutations in the neural crest or mesoderm are responsible for its development quite early in the development of the embryo.

What are the clinical signs of Cobb syndrome?

Cobb syndrome presents with multiple vascular lesions:

• Capillary vascular malformations (port wine stains) in a dermatomal distribution in the trunk
• Arteriovenous malformations
• Other vascular injuries, including angioma, angiokeratoma, angiolipomacavernous hemangiomaand lymphatic malformation.

Signs of neurological involvement include:

• Hyperreflexia (hyperactivity of physiological reflexes) and sensory and motor defects, including paralysis
• Morphologic (structural) anomalies of the central nervous system.

If neurological symptoms occur, they may occur in intermittent episodes, gradual progression, or with a sudden onset.

Structural abnormalities of the urinary tract are also reported.

What are the complications of Cobb syndrome?

Possible complications of Cobb syndrome include:

• Combined kyphosis and scoliosis, bone and joint pain due to spinal involvement
• Thrombosis within arteriovenous malformations
• Necrotic myelopathy and Foix-Alajouanine syndrome
• More rarely, congestive heart failure, and gangrene.

How is Cobb syndrome diagnosed?

Cobb syndrome is diagnosed by the presence of multiple cutaneous vascular lesions and neurological defects. Spinal vascular lesions associated with Cobb syndrome can be diagnosed by Magnetic resonance, despite Connecticut scans, x-ray or angiography It can also be used for detection.

How is Cobb syndrome treated?

Treatment for Cobb syndrome may include:

• Endovascular sclerotherapy embolization and surgical excision of vascular lesions

• oral steroids
• Physical therapy

• Compression garments for capillaries, venous or lymphatic abnormalities.

What is the prognosis for Cobb syndrome?

The outlook for children with Cobb syndrome is dependent about:

• The severity of spinal and neurological involvement.
• Early detection and intervention to prevent or minimize neurological symptoms.