Periventricular nodular heterotopia (Q98488): Difference between revisions
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Heterotopia nodular periventricular (HNP) é uma malformação cerebral, devida à migração neuronal anormal, na qual um subconjunto de neurônios não consegue migrar para o córtex cerebral em desenvolvimento e permanece como nódulos que revestem a superfície ventricular. A HPN clássica é um raro transtorno dominante ligado ao X, muito mais frequente em mulheres que apresentam inteligência normal a déficit intelectual limítrofe, epilepsia de gravidade variável e sinais externos ao sistema nervoso, especialmente defeitos cardiovasculares ou coagulopatia. O transtorno geralmente está associado à letalidade pré-natal em homens. | |||
| description / en | description / en | ||
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. | |||
Revision as of 14:59, 16 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_20200096 |
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| English | Periventricular nodular heterotopia |
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. |
