Neurodevelopmental disorder associated with gene ARF3: A case report.

Autor: Dos Santos Henrique S; Pediatric Neurology Department, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., França MJ; Medicine Faculty, Positivo University, Curitiba, Paraná, Brazil., Silva Junior RC; Pediatric Neurology Department, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., Santos MLSF; Pediatric Neurology Department, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil., do Valle DA; Pediatric Neurology Department, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.; Medicine Faculty, Positivo University, Curitiba, Paraná, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63658. Date of Electronic Publication: 2024 May 07.
DOI: 10.1002/ajmg.a.63658
Abstrakt: We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole-exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neurodevelopmental disorder associated with the ARF3 gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z-shaped morphology of the brainstem is observed, ARF3-associated disorder should be included in the list of differential diagnoses.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: