Overview
Spinal cord lipoma is a rare congenital malformation in which a benign fatty mass (lipoma) is located within or adjacent to the spinal cord, most commonly in the lumbosacral region. It is classified as a form of occult spinal dysraphism (closed neural tube defect), meaning the overlying skin is typically intact, though a subcutaneous fatty mass, skin dimple, dermal sinus, or hairy patch may be visible over the lower back. The lipoma is attached to or integrated into the spinal cord and its coverings, and it can cause tethering of the spinal cord, restricting its normal movement within the spinal canal. The condition primarily affects the nervous system and musculoskeletal system. Key clinical features result from spinal cord tethering and compression and may include progressive lower limb weakness, gait abnormalities, sensory changes in the legs and perineum, lower back or leg pain, foot deformities (such as clubfoot or cavus foot), scoliosis, and neurogenic bladder and bowel dysfunction (urinary incontinence, constipation, or fecal incontinence). Symptoms may be present from birth or may develop insidiously during childhood as the child grows and the tethered cord is subjected to increasing traction. Some patients remain asymptomatic and are diagnosed incidentally. Diagnosis is typically made through magnetic resonance imaging (MRI) of the spine, which can delineate the lipoma and its relationship to the spinal cord. Management is primarily surgical, involving neurosurgical untethering of the spinal cord and debulking of the lipoma to prevent or halt neurological deterioration. The decision to operate on asymptomatic patients remains a subject of clinical debate, as surgery carries risks including re-tethering. Conservative management with close clinical and urological monitoring may be appropriate in selected cases. Early detection and multidisciplinary follow-up involving neurosurgery, urology, and rehabilitation are important for optimizing outcomes.
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 Spinal cord lipoma.
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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 Spinal cord lipoma.
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Common questions about Spinal cord lipoma
What is Spinal cord lipoma?
Spinal cord lipoma is a rare congenital malformation in which a benign fatty mass (lipoma) is located within or adjacent to the spinal cord, most commonly in the lumbosacral region. It is classified as a form of occult spinal dysraphism (closed neural tube defect), meaning the overlying skin is typically intact, though a subcutaneous fatty mass, skin dimple, dermal sinus, or hairy patch may be visible over the lower back. The lipoma is attached to or integrated into the spinal cord and its coverings, and it can cause tethering of the spinal cord, restricting its normal movement within the spin
How is Spinal cord lipoma inherited?
Spinal cord lipoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Spinal cord lipoma?
15 specialists and care centers treating Spinal cord lipoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.