Periventricular nodular heterotopia

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Synonyms: PVNH

Periventricular nodular heterotopia (PNH) is a brain malformation due to abnormal neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit epilepsy of variable severity and extra-central nervous system signs especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Periventricular nodular heterotopia?

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