Dataset Information
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.
Ontology highlight
ABSTRACT: Background
The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease.Case presentation
The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms. After presenting with a sudden choreic movement disorder, the neuroimaging investigation revealed an ischemic stroke, moyamoya disease, and bilateral incomplete hippocampal inversion. Chromosomal microarray analysis revealed a deletion of 13.2 Mb at 1p31.3p32.2, compatible with the contiguous gene syndrome caused by microdeletions of this region.Discussion/conclusion
This is the second report of a patient who developed Moyamoya disease and the first to describe bilateral incomplete hippocampal inversion in this microdeletion syndrome.
SUBMITTER: Pires de Oliveira-Sobrinho R
PROVIDER: S-EPMC11149963 | biostudies-literature | 2024 Jun
REPOSITORIES: biostudies-literature
Publications
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.
Molecular syndromology 20240115 3
<h4>Background</h4>The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease.<h4>Case presentation</h4>The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus ...[more]