Encephalocraniocutaneous lipomatosis (Q90781): Difference between revisions
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Lipomatose encefalocraniocutânea é uma síndrome neurocutânea esporádica rara envolvendo tecidos de origem ectodérmica e mesodérmica e caracterizada por déficit intelectual profundo, início precoce de convulsões, lipomatose temporofrontal unilateral, lipomatose cerebral e leptomeningeal ipsilateral, malformação e calcificação cerebrais, e lipomas do crânio, do olho e do coração. | |||
| description / en | description / en | ||
Encephalocraniocutaneous lipomatosis is a rare sporadic neurocutaneous syndrome involving tissues of ectodermal and mesodermal origin and characterised by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation and calcification, and lipomas of the skull, eye, and heart. | |||
Revision as of 17:46, 15 August 2026
Encephalocraniocutaneous lipomatosis is a rare sporadic neurocutaneous syndrome involving tissues of ectodermal and mesodermal origin and characterised by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation and calcification, and lipomas of the skull, eye, and heart.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1084215843 |
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| English | Encephalocraniocutaneous lipomatosis |
Encephalocraniocutaneous lipomatosis is a rare sporadic neurocutaneous syndrome involving tissues of ectodermal and mesodermal origin and characterised by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation and calcification, and lipomas of the skull, eye, and heart. |
