Periventricular nodular heterotopia
What is it?
Periventricular nodular heterotopia (PVNH) is a rare genetic disorder that affects brain development. It is characterized by the presence of small, noncancerous nodules of brain tissue near the fluid-filled cavities (ventricles) of the brain.
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Additional names
This group contains additional names:
- PVNH
Signs & symptoms
Symptoms of PVNH can vary widely, depending on the location and size of the nodules. Some people with PVNH may have no symptoms at all, while others may experience:
- Seizures
- Developmental delays
- Learning disabilities
- Intellectual disability
- Movement disorders
- Vision problems
- Behavioral and psychiatric disorders
Diagnosis
The diagnosis of PVNH typically involves imaging studies such as magnetic resonance imaging (MRI) of the brain. Genetic testing may also be performed to confirm the diagnosis and identify the specific genetic mutation responsible for the disorder.
Treatment
Treatment for PVNH is primarily symptomatic and supportive. This may involve medications to control seizures or other neurological symptoms, physical and occupational therapy to improve mobility and coordination, and special education services to address developmental delays and learning disabilities.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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