Overview
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome, also known as BSCL2-related neurodegeneration or Celia's encephalopathy, is an extremely rare genetic condition that affects the brain and body fat distribution. It is caused by specific mutations in the BSCL2 gene (also called seipin), which is important for both brain development and fat cell function. Children with this condition typically appear healthy at birth but begin to show signs of developmental problems in early childhood. The disease causes progressive damage to the brain (encephalopathy), leading to loss of previously acquired skills such as walking, talking, and the ability to interact with others. Over time, children experience severe neurological decline, including seizures, loss of muscle control, and intellectual disability. In addition to the brain problems, affected children develop lipodystrophy, which means they lose body fat in certain areas, leading to a distinctive physical appearance and metabolic complications such as insulin resistance and high triglyceride levels. Unfortunately, there is currently no cure or disease-modifying treatment for this condition. Care is focused on managing symptoms, providing nutritional support, controlling seizures, and maintaining comfort and quality of life. The disease follows a progressive course, and most affected children have a significantly shortened lifespan.
Also known as:
Key symptoms:
Loss of previously learned skills (developmental regression)SeizuresLoss of body fat (lipodystrophy)Severe intellectual disabilityDifficulty walking or loss of ability to walkLoss of speechMuscle stiffness or spasticityInvoluntary movementsDifficulty swallowingPoor growth and failure to thriveInsulin resistanceHigh triglyceride levels in the bloodEnlarged liverIrritabilityVision problems
Clinical phenotype terms (37)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome.
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 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome.
Community
No community posts yet. Be the first to share your experience with Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome.
Start the conversation →Latest news about Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
No recent news articles for Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome.
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.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected course of this disease for my child specifically?,What medications and therapies are available to manage seizures and other symptoms?,When should we consider tube feeding, and how will we know it's time?,Are there any clinical trials or research studies we could participate in?,What palliative care services are available to support our family?,Should other family members be tested to see if they carry the gene mutation?,What emergency plans should we have in place for seizures or breathing problems?
Common questions about Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
What is Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome?
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome, also known as BSCL2-related neurodegeneration or Celia's encephalopathy, is an extremely rare genetic condition that affects the brain and body fat distribution. It is caused by specific mutations in the BSCL2 gene (also called seipin), which is important for both brain development and fat cell function. Children with this condition typically appear healthy at birth but begin to show signs of developmental problems in early childhood. The disease causes progressive damage to the brain (encephalopathy), leading to loss
How is Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome inherited?
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome typically begin?
Typical onset of Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome is infantile. Age of onset can vary across affected individuals.