Living with Leukoencephalopathy with calcifications and cysts
A rare inherited condition of the small blood vessels in the brain, with calcium deposits and cysts that cause nervous system problems.
Understanding Leukoencephalopathy with calcifications and cysts
It damages the brain's white matter and causes calcium buildup and fluid-filled sacs (cysts) in brain tissue. It can affect people of any age and gets worse over time. All forms involve nervous system problems, such as trouble thinking and seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble thinking (cognitive impairment)
- Seizures
- Poor balance and coordination (ataxia)
- Calcium deposits in the brain
- Brain cysts
- Mood swings (emotional lability)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SNORD118 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The LCC Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SNORD118 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: labrune syndrome; lcc; leukoencephalopathy, brain calcifications, and cysts
Patient organizations
- The LCC FoundationLeukoencephalopathy with calcifications and cysts · United States
You are more than your diagnosis
Perspectives from people navigating life with Leukoencephalopathy with calcifications and cysts.
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