Living with Congenital neuronal ceroid lipofuscinosis
A severe, very early form of a genetic brain condition that causes a small head and seizures from birth.
Understanding Congenital neuronal ceroid lipofuscinosis
It is marked by a small head from birth (primary microcephaly) and seizures in newborns (neonatal epilepsy). It belongs to a group of genetic conditions that affect how the body breaks down waste inside cells.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions a small head and seizures in newborns.
- Small head from birth (microcephaly)
- Seizures in newborns (neonatal epilepsy)
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 Children's Brain Disease 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
GARD says changes in genes cause this condition. It doesn't name a gene.
Patient organizations
- Children's Brain Disease FoundationCongenital neuronal ceroid lipofuscinosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital neuronal ceroid lipofuscinosis.
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