Transitional extramedullary conus spinal cord lipoma

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Overview

Transitional extramedullary conus spinal cord lipoma is a very rare type of spinal lipoma, which is a fatty growth (lipoma) that develops near the lower end of the spinal cord, in the area called the conus medullaris. The term 'transitional' refers to the specific way the lipoma connects to the spinal cord, and 'extramedullary' means the fatty tissue is located outside the spinal cord itself but is attached to it. This condition is a form of spinal dysraphism, meaning the spine did not close completely during early development in the womb. This type of lipoma can cause problems by tethering (pulling on) the spinal cord, which can lead to neurological symptoms affecting the legs, bladder, and bowel function. Symptoms may include leg weakness, difficulty walking, changes in sensation in the lower body, bladder or bowel control problems, and sometimes back or leg pain. Some patients may also have visible skin changes on the lower back, such as a dimple, tuft of hair, or fatty lump. Treatment typically involves neurosurgical evaluation and, in many cases, surgery to release the tethered spinal cord and remove as much of the lipoma as safely possible. The goal of surgery is to prevent worsening of neurological symptoms. Long-term follow-up with a multidisciplinary team is important, as some patients may experience symptom recurrence over time. Early diagnosis and intervention generally lead to better outcomes.

Key symptoms:

Leg weaknessDifficulty walking or changes in gaitNumbness or tingling in the legs or feetBladder control problems such as incontinence or difficulty urinatingBowel control problemsBack pain or leg painVisible fatty lump on the lower backSkin dimple or tuft of hair on the lower backFoot deformities such as high arches or curled toesUneven leg length or muscle sizeScoliosis or curvature of the spineRecurrent urinary tract infections

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 Transitional extramedullary conus spinal cord lipoma.

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

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No specialists are currently listed for Transitional extramedullary conus spinal cord lipoma.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Transitional 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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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the tethering of the spinal cord, and is surgery recommended now or can we monitor it?,What are the risks and benefits of surgery for my specific situation?,What neurological functions are most at risk if we wait to treat?,How will bladder and bowel function be monitored and managed?,What is the chance of the spinal cord re-tethering after surgery?,What therapies or rehabilitation will be needed after surgery?,How often should follow-up MRI scans and neurological exams be done?

Common questions about Transitional extramedullary conus spinal cord lipoma

What is Transitional extramedullary conus spinal cord lipoma?

Transitional extramedullary conus spinal cord lipoma is a very rare type of spinal lipoma, which is a fatty growth (lipoma) that develops near the lower end of the spinal cord, in the area called the conus medullaris. The term 'transitional' refers to the specific way the lipoma connects to the spinal cord, and 'extramedullary' means the fatty tissue is located outside the spinal cord itself but is attached to it. This condition is a form of spinal dysraphism, meaning the spine did not close completely during early development in the womb. This type of lipoma can cause problems by tethering (

How is Transitional extramedullary conus spinal cord lipoma inherited?

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