Lissencephaly type 1 due to doublecortin gene mutation (Q94691): Difference between revisions
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Lissencefalia tipo 1 devida a mutações no gene da duplecortina (DCX) é uma anomalia semidominante ligada ao X de migração neuronal caracterizada por deficiência intelectual e convulsões que são mais graves em pacientes do sexo masculino. Em meninos, há paquigiria ou agiria que resulta em dificuldades de deglutição e alimentação, tônus muscular anormal, convulsões e atraso psicomotor grave a profundo. Pacientes do sexo feminino exibem uma malformação menos grave denominada ''córtex duplo'' ou heterotopia laminar subcortical e apresentam sinais clínicos de gravidade variável que vão desde epilepsia leve, começando na infância ou adolescência com dificuldades na escola, a convulsões epilépticas refratárias e deficiências intelectuais graves. | |||||||||||||||
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Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked anomaly of neuronal migration characterised by intellectual deficiency and seizures that are more severe in male patients. In boys, there is pachygyria or agyria that results in swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''double cortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy, beginning in childhood or adolescence with difficulties at school, to refractory epileptic seizures and severe intellectual deficiency. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/891064255 / rank | |||||||||||||||
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CID11:ID_891064255 | |||||||||||||||
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dki-india-ID_891064255 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 10:04, 16 August 2026
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked anomaly of neuronal migration characterised by intellectual deficiency and seizures that are more severe in male patients. In boys, there is pachygyria or agyria that results in swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''double cortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy, beginning in childhood or adolescence with difficulties at school, to refractory epileptic seizures and severe intellectual deficiency.
| Language | Label | Description | Also known as |
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| default for all languages | ID_891064255 |
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| English | Lissencephaly type 1 due to doublecortin gene mutation |
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked anomaly of neuronal migration characterised by intellectual deficiency and seizures that are more severe in male patients. In boys, there is pachygyria or agyria that results in swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''double cortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy, beginning in childhood or adolescence with difficulties at school, to refractory epileptic seizures and severe intellectual deficiency. |
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CID11:ID_891064255
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dki-india-ID_891064255
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Concluído
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15 August 2026
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