Extramedullary conus spinal cord lipoma

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Overview

Extramedullary conus spinal cord lipoma is a rare congenital malformation of the spinal cord in which a benign fatty mass (lipoma) develops outside the substance of the spinal cord (extramedullary) at the level of the conus medullaris — the tapered, terminal end of the spinal cord located in the lower back region. This condition falls within the broader category of spinal lipomas, which are part of the spectrum of spinal dysraphism (defects in the closure of the neural tube during embryonic development). The lipoma may compress or tether the spinal cord and adjacent nerve roots, potentially leading to neurological dysfunction. Clinical features can vary depending on the size and exact location of the lipoma and the degree of spinal cord or nerve root compression. Patients may present with lower extremity weakness, sensory changes in the legs or perineal region, gait abnormalities, back pain, and bowel or bladder dysfunction. In some cases, the condition may be detected incidentally or in early childhood when cutaneous stigmata of spinal dysraphism (such as a subcutaneous lipoma, skin dimple, or hairy patch over the lower back) prompt further investigation. Tethered cord syndrome, in which the spinal cord is abnormally fixed and stretched, is a common associated finding. Management typically involves neurosurgical evaluation. Surgical intervention — including debulking of the lipoma and untethering of the spinal cord — may be recommended in symptomatic patients or when there is evidence of progressive neurological deterioration. The goal of surgery is to relieve compression and prevent further neurological decline, though outcomes depend on the extent of involvement and timing of intervention. Long-term follow-up with neuroimaging and clinical assessments is important, as retethering can occur after surgery. There is currently no curative medical therapy, and treatment remains primarily surgical and supportive.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Extramedullary conus spinal cord lipoma.

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No actively recruiting trials found for Extramedullary conus spinal cord lipoma at this time.

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No specialists are currently listed for Extramedullary conus spinal cord lipoma.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Extramedullary conus spinal cord lipoma.

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Community

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Caregiver Resources

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Social Security Disability

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Common questions about Extramedullary conus spinal cord lipoma

What is Extramedullary conus spinal cord lipoma?

Extramedullary conus spinal cord lipoma is a rare congenital malformation of the spinal cord in which a benign fatty mass (lipoma) develops outside the substance of the spinal cord (extramedullary) at the level of the conus medullaris — the tapered, terminal end of the spinal cord located in the lower back region. This condition falls within the broader category of spinal lipomas, which are part of the spectrum of spinal dysraphism (defects in the closure of the neural tube during embryonic development). The lipoma may compress or tether the spinal cord and adjacent nerve roots, potentially le

How is Extramedullary conus spinal cord lipoma inherited?

Extramedullary conus spinal cord lipoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.