Periventricular nodular heterotopia (Q98488): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
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+https://id.who.int/icd/entity/20200096
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@@ Property / Collection date @@
+August 2026Timestamp +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
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++2026-08-15T00:00:00Z
-Timezone
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+day
 Before
 After
@@ Property / Collection date: 15 August 2026 / rank @@
+Normal rank

Latest 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
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.