Living with Occipital pachygyria and polymicrogyria
A rare genetic brain difference in the back of the brain, usually causing seizures and sometimes developmental delay or vision loss.
Understanding Occipital pachygyria and polymicrogyria
The brain surface is smoother than usual in some places, with too many small, irregular folds in others. Most people have seizures of several types. Developmental or intellectual delay can range from absent to moderate. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fewer, broader ridges in the brain (pachygyria)
- Extra grooves in the brain (polymicrogyria)
- Seizures, including full-body (tonic-clonic) seizures
- Seizures with changes in awareness
- Delayed development overall
- Vision loss
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in LAMC3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
PMG Awareness Organization and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: PMG Awareness Organization, Epilepsy Foundation
- 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 PMG Awareness Organization 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
Changes in the LAMC3 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: occipital malformations of cortical development; occipital mcd
Patient organizations
- PMG Awareness OrganizationOccipital pachygyria and polymicrogyria · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Occipital pachygyria and polymicrogyria.
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