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.
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Extramedullary conus spinal cord lipoma.
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Specialists
View all specialists →No specialists are currently listed for Extramedullary conus spinal cord lipoma.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA 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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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.