Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Cerebellar heterotopia
Cerebral malformation
KBG syndrome
Neuropsychiatric disorder
Journal
Cerebellum (London, England)
ISSN: 1473-4230
Titre abrégé: Cerebellum
Pays: United States
ID NLM: 101089443
Informations de publication
Date de publication:
09 Feb 2024
09 Feb 2024
Historique:
accepted:
19
01
2024
medline:
9
2
2024
pubmed:
9
2
2024
entrez:
9
2
2024
Statut:
aheadofprint
Résumé
KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent.We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres.This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development.
Identifiants
pubmed: 38334877
doi: 10.1007/s12311-024-01661-6
pii: 10.1007/s12311-024-01661-6
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
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