Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Cerebellum
; 23(4): 1736-1740, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-38334877
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cerebellum
Limits:
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Cerebellum
Journal subject:
CEREBRO
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: