Isolated transitional filum lipoma

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ORPHA:645322Q06.8
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Overview

Isolated transitional filum lipoma is a rare congenital spinal anomaly classified under other specified congenital malformations of the spinal cord (ICD-10: Q06.8). This condition involves the presence of fatty tissue (lipoma) within the filum terminale, the thin filament that extends from the conus medullaris (the terminal end of the spinal cord) to the coccyx. The term 'transitional' refers to the location of the lipomatous infiltration at the junction between the conus medullaris and the filum terminale. Unlike more complex forms of spinal lipomas or lipomyelomeningoceles, this condition occurs in isolation without other associated spinal dysraphism or neural tube defects. The filum terminale lipoma may be discovered incidentally on imaging or may present with symptoms related to tethered cord syndrome, which occurs when the fatty infiltration causes abnormal tethering of the spinal cord. When symptomatic, patients may experience lower back pain, lower extremity weakness or sensory changes, bowel or bladder dysfunction, and progressive neurological deterioration, particularly during periods of growth. Many cases, however, remain asymptomatic throughout life. Management depends on whether the condition is symptomatic. Asymptomatic patients identified incidentally may be monitored with periodic clinical and imaging follow-up. For symptomatic patients or those showing progressive neurological decline, surgical intervention involving sectioning (cutting) of the filum terminale to release the tethered cord is the standard treatment. This procedure generally has favorable outcomes when performed before irreversible neurological damage occurs. Early diagnosis and appropriate monitoring are important to prevent long-term complications.

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 Isolated transitional filum lipoma.

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No actively recruiting trials found for Isolated transitional filum lipoma at this time.

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No specialists are currently listed for Isolated transitional filum 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 Isolated transitional filum lipoma.

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Common questions about Isolated transitional filum lipoma

What is Isolated transitional filum lipoma?

Isolated transitional filum lipoma is a rare congenital spinal anomaly classified under other specified congenital malformations of the spinal cord (ICD-10: Q06.8). This condition involves the presence of fatty tissue (lipoma) within the filum terminale, the thin filament that extends from the conus medullaris (the terminal end of the spinal cord) to the coccyx. The term 'transitional' refers to the location of the lipomatous infiltration at the junction between the conus medullaris and the filum terminale. Unlike more complex forms of spinal lipomas or lipomyelomeningoceles, this condition oc

How is Isolated transitional filum lipoma inherited?

Isolated transitional filum lipoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.