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.
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 Isolated transitional filum lipoma.
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Specialists
View all specialists →No specialists are currently listed for Isolated transitional filum 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 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.