What is LUMBAR syndrome?

LUMBAR syndrome is an association between certain abnormalities and a large vascular birthmark on the lower half of a child’s body. The birthmark, called an infantile hemangioma, is strawberry colored and raised. It may appear on the lower back and extend down to the leg.

LUMBAR is an acronym for the anomalies the condition may cause:

• Lower-body hemangioma
• Urogenital abnormalities/ulceration
• Myelopathy (severe compression) of the spinal cord
• Bony deformities
• Anorectal malformations and arterial anomalies
• Renal anomalies

What causes LUMBAR syndrome?

LUMBAR syndrome is uncommon and occurs more frequently in girls than in boys. Its cause is unknown.

What are the symptoms of LUMBAR syndrome?

LUMBAR can affect the development of the spinal cord, anus, bones and kidneys. The symptoms and severity of LUMBAR vary by the location of the hemangioma and which parts of the body are involved. Conditions associated with LUMBAR include:

• A tethered spinal cord, in which the spinal cord’s movement is limited within the spinal column
• A displaced anus
• Having one limb that is shorter than the other
• The development of a single kidney
• Bladder exstrophy, a condition in which the bladder is turned inside out
• Skin ulcerations can be a painful complication of having a hemangioma in the lumbosacral area (lower back and pelvis).

How is LUMBAR syndrome diagnosed?

LUMBAR syndrome is diagnosed by the presence of a hemangioma usually larger than 5 centimeters in diameter and in a segmental or patterned distribution (not round or oval). Imaging tests of the underlying areas will confirm the diagnosis. Depending on the location of the hemangioma, tests may include:

• Magnetic resonance imaging (MRI)
• Magnetic resonance angiography (MRA), which provides pictures of  the body’s blood vessels
• An ultrasound

What are the treatment options?

The treatment of choice for children with LUMBAR is the beta blocker propranolol. Other treatments are based on the associated findings such as tethered spinal cord and will be guided by our multidisciplinary team at Children's Hospital of Philadelphia’s (CHOP) Comprehensive Vascular Anomalies Program (CVAP). Therapy will be highly individualized, targeting the symptoms and organs involved.

The CHOP difference

Children seen by the CVAP team at CHOP benefit from a multidisciplinary team with extensive experience and deep expertise in the assessment and management of LUMBAR syndrome. World-class specialists offer comprehensive care tailored to each child’s condition. The CVAP team at CHOP supports patients and their families every step of the way in their journey in managing a diagnosis of LUMBAR syndrome.