Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.
Clin Neurol Neurosurg
; 225: 107584, 2023 02.
Article
em En
| MEDLINE
| ID: mdl-36603335
ABSTRACT
Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia with calcifications, corresponding clinical diagnoses of cerebral palsy mimics. Axenfeld-Rieger syndrome with leukoencephalopathy, HANAC syndrome, young- and late-onset stroke and malformation of cortical development are rarer presentations. Very recently, the existence of recessive COL4A1- and COL4A2-related forms has been documented. We broaden the phenotypic and genotypic spectra of COL4A2-related disease by describing this second family with recessive pathogenic variants and neuroimaging phenotype of leukoencephalopathy with spot-like calcifications.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Transtornos Cerebrovasculares
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Acidente Vascular Cerebral
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Leucoencefalopatias
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Porencefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article