Periventricular nodular heterotopia
Engelsk navn: Periventricular nodular heterotopia
Engelske synonym: PVNH
Definisjon
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.
Fra Orphanet
ORPHA: 98892
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q04.8
Mer informasjon
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