Periventricular nodular heterotopia
ORPHA:98892· ICD-10 Q04.8
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Age of onset
- Childhood