Overview
Occipital pachygyria and polymicrogyria is a rare brain malformation that affects the back part of the brain, called the occipital lobe. In this condition, the normal folds of the brain (called gyri) do not form correctly during development before birth. "Pachygyria" means the brain folds are too thick and too few, while "polymicrogyria" means there are too many small, abnormally formed folds. When these changes occur in the occipital region, they primarily affect the area of the brain responsible for processing vision. People with this condition may experience a range of symptoms depending on how much of the brain is affected. Common problems include visual difficulties, seizures (epilepsy), developmental delays, and varying degrees of intellectual disability. Some individuals may have relatively mild symptoms, while others can be more severely affected. Seizures often begin in infancy or early childhood and may be difficult to control with medication. There is currently no cure for this condition. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications, and providing supportive therapies such as physical therapy, occupational therapy, and speech therapy. Early intervention programs can help children reach their developmental potential. The outlook varies widely depending on the extent of the brain malformation and how well seizures respond to treatment.
Key symptoms:
Seizures or epilepsyVision problems or visual impairmentDevelopmental delaysIntellectual disabilityDifficulty with motor skillsDelayed speech and language developmentLow muscle tone in infancyDifficulty with fine motor tasks like writing or graspingLearning difficultiesProblems with balance and coordinationCortical visual impairmentFeeding difficulties in infancy
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
1 availableDyural 80-Lm
Control of severe or incapacitating allergic conditions intractable to adequate trials of conventional treatment in asthma, atopic dermatitis, contact dermatitis, drug hypersensitivity reactions, seru…
Control of severe or incapacitating allergic conditions intractable to adequate trials of conventional treatment in asthma, atopic dermatitis, contact dermatitis, drug hypersensitivity reactions, serum sickness, transfusion reactions
Clinical Trials
View all trials with filters →No actively recruiting trials found for Occipital pachygyria and polymicrogyria at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Occipital pachygyria and polymicrogyria.
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 Occipital pachygyria and polymicrogyria.
Community
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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.How much of my child's brain is affected, and what does the MRI show specifically?,What type of seizures does my child have, and what is the best medication to control them?,Should we pursue genetic testing, and what might the results tell us?,What therapies do you recommend, and how often should they occur?,What is the long-term outlook for my child's development and independence?,Are there any clinical trials or new treatments being studied for this condition?,What should I do if my child has a seizure that lasts more than 5 minutes?
Common questions about Occipital pachygyria and polymicrogyria
What is Occipital pachygyria and polymicrogyria?
Occipital pachygyria and polymicrogyria is a rare brain malformation that affects the back part of the brain, called the occipital lobe. In this condition, the normal folds of the brain (called gyri) do not form correctly during development before birth. "Pachygyria" means the brain folds are too thick and too few, while "polymicrogyria" means there are too many small, abnormally formed folds. When these changes occur in the occipital region, they primarily affect the area of the brain responsible for processing vision. People with this condition may experience a range of symptoms depending o
At what age does Occipital pachygyria and polymicrogyria typically begin?
Typical onset of Occipital pachygyria and polymicrogyria is infantile. Age of onset can vary across affected individuals.