Living with Isolated encephalocele
A rare birth defect in which part of the brain and its coverings push out through an opening in the skull.
Understanding Isolated encephalocele
The neural tube does not close fully during early development in the womb. The sac can be at the back of the skull, the top of the skull, or between the forehead and nose. It is usually seen right after birth, though a small one near the nose or forehead can go unnoticed. Sacs at the back of the skull are often linked to neurological problems.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes this main feature:
- Sac of brain tissue pushing through the skull
- Neurological problems, especially when at the back of the skull
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Hydrocephalus Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hydrocephalus Association
- 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 Hydrocephalus Association and other patient organizations
- 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 the neural tube not closing completely during development. GARD says there is a genetic part, and it often occurs in families with spina bifida or anencephaly.
Patient organizations
- Hydrocephalus AssociationIsolated encephalocele · United States
- There Is Hope: Encephalocele AwarenessIsolated encephalocele · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated encephalocele.
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