Periventricular heterotopia

What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia?

The following evaluations are recommended:

• Imaging exams of the brain to establish the diagnosis
• Evaluation by a neurologist
• Evaluation by a doctor specialized in epilepsy if seizures are present
• Psychiatric evaluation if necessary
Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke
• Evaluation by a cardiologist and either echocardiogram or a heart magnetic resonance imaging (MRI) because of the risk for aortic aneurysm
• Evaluation by a hematologist if findings suggest a bleeding diathesis.

Last updated on 05-01-20

How might periventricular heterotopia be treated?

Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality. Carbamezipine is most often used, because most people with this condition have focal seizures. However, the choice of antiepileptic drug may be selected based on side effects, tolerability, and efficacy.

It is recommended that people with the X-linked form of the condition have studies evaluating the carotid artery and an abdominal ultrasound, due to the risk for aortic or carotid dissection or other vascular anomalies.

Treatment may also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.

Last updated on 05-01-20

Name: Brain Foundation P O Box 579 Crows Nest, NSW
1585 Suite 21 Regent House 37-43 Alexander Street Crows Nest, NSW 2065
Australia
Phone: 61 2 9437 5967 Fax : 61 2 9437 5978 Email: http://brainfoundation.org.au/contact Url: http://www.brainfoundation.org.au/
Name: PVNH Support & Awareness 206-1082 West 8th Avenue
Vancouver British Columbia, V6H 1C4, Canada
Phone: +1-604-714-1222 Email: info@pvnhsupport.com Url: http://pvnhsupport.com/
Periventricular heterotopia Genetics Home Reference (GHR). November, 2007; Reference Link Sheen VL, Bodell A & Walsh CA. X-Linked Periventricular Heterotopia GeneReviews. September 17, 2015; Reference Link

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