Intramedullary non-dysraphic spinal cord lipoma

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:645359Q06.8
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Intramedullary non-dysraphic spinal cord lipoma is an extremely rare benign fatty tumor that develops within the substance of the spinal cord itself, without any associated spinal dysraphism (i.e., without defects in the closure of the neural tube such as spina bifida or myelomeningocele). Unlike the more common lipomas associated with spinal dysraphism, these lesions arise within an otherwise normally formed spinal cord and are not connected to subcutaneous fat or skin abnormalities. They are thought to represent congenital malformations resulting from abnormal differentiation of mesenchymal cells during embryonic development, though the exact etiology remains unclear. The condition primarily affects the central nervous system, specifically the spinal cord. Clinical presentation depends on the location and size of the lipoma within the spinal cord and typically includes progressive myelopathy with symptoms such as motor weakness in the limbs, sensory disturbances (numbness, tingling, or pain), gait difficulties, and in some cases bowel or bladder dysfunction. Symptoms may develop insidiously over months to years as the lipoma slowly enlarges and compresses surrounding neural tissue. The cervical and thoracic segments of the spinal cord are most commonly affected. Diagnosis is established through magnetic resonance imaging (MRI), which characteristically shows a well-defined hyperintense lesion on T1-weighted images within the spinal cord, without contrast enhancement. Treatment is primarily surgical, involving subtotal resection or debulking of the lipoma to decompress the spinal cord and halt neurological deterioration. Complete resection is often not feasible due to the intimate relationship of the lipoma with functional neural tissue. The prognosis following surgery is generally favorable, with stabilization or improvement of neurological symptoms in many patients, though recurrence is possible. There is no established medical therapy for this condition.

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 Intramedullary non-dysraphic spinal cord lipoma.

View clinical trials →

No actively recruiting trials found for Intramedullary non-dysraphic spinal cord lipoma at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Intramedullary non-dysraphic spinal cord lipoma community →

No specialists are currently listed for Intramedullary non-dysraphic 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 Intramedullary non-dysraphic spinal cord lipoma.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Intramedullary non-dysraphic spinal cord lipomaForum →

No community posts yet. Be the first to share your experience with Intramedullary non-dysraphic spinal cord lipoma.

Start the conversation →

Latest news about Intramedullary non-dysraphic spinal cord lipoma

No recent news articles for Intramedullary non-dysraphic spinal cord lipoma.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Intramedullary non-dysraphic spinal cord lipoma

What is Intramedullary non-dysraphic spinal cord lipoma?

Intramedullary non-dysraphic spinal cord lipoma is an extremely rare benign fatty tumor that develops within the substance of the spinal cord itself, without any associated spinal dysraphism (i.e., without defects in the closure of the neural tube such as spina bifida or myelomeningocele). Unlike the more common lipomas associated with spinal dysraphism, these lesions arise within an otherwise normally formed spinal cord and are not connected to subcutaneous fat or skin abnormalities. They are thought to represent congenital malformations resulting from abnormal differentiation of mesenchymal

How is Intramedullary non-dysraphic spinal cord lipoma inherited?

Intramedullary non-dysraphic spinal cord lipoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.