Preferred Label : Periventricular nodular heterotopia;
ICD-11 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.;
Origin ID : 20200096;
Automatic exact mappings (from CISMeF team)
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.
