Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy

Kentaro Sano; Fuyuki Miya; Mitsuhiro Kato; Taku Omata; Jun-Ichi Takanashi

doi:10.1016/j.braindev.2023.07.003

Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy

Brain Dev. 2023 Nov;45(10):583-587. doi: 10.1016/j.braindev.2023.07.003. Epub 2023 Aug 4.

Authors

Kentaro Sano¹, Fuyuki Miya², Mitsuhiro Kato³, Taku Omata¹, Jun-Ichi Takanashi⁴

Affiliations

¹ Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96, Owada shinden, Yachiyo, Chiba 276-0046, Japan.
² Center for Medical Genetics, Keio University School of Medicine, 35 Shinano-machi, Shinjuku-ku, Tokyo 160-8582, Japan.
³ Department of Pediatrics, Showa University School of Medicine, 1-5-8, Hatanodai, Shinagawa-ku, Tokyo 142-8555, Japan.
⁴ Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96, Owada shinden, Yachiyo, Chiba 276-0046, Japan. Electronic address: jtaka@twmu.ac.jp.

PMID: 37543484
DOI: 10.1016/j.braindev.2023.07.003

Abstract

Background: Mutations in the FBXO28 gene, which encodes FBXO28, one of the F-box protein family, may cause developmental and epileptic encephalopathy (DEE). FBXO28-related DEE is radiologically characterized by cerebral atrophy, delayed/abnormal myelination, and brain malformation; however, no neurochemical analyses have been reported.

Case report: A female Japanese infant presented with severe psychomotor delay, epileptic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the FBXO28 gene, leading to the diagnosis of FBXO28-related DEE. Magnetic resonance (MR) spectroscopy at 6, 12, and 32 months revealed decreased N-acetylaspartate and choline-containing compounds and increased levels of myoinositol.

Conclusion: MR spectroscopy revealed neurochemical derangement in FBXO28-related DEE, that is, disturbed myelination secondary to neuronal damage with astrogliosis.

Keywords: Developmental and epileptic encephalopathy; FBXO28; MR spectroscopy; Secondary leukodystrophy; Ubiquitination.

Publication types

Case Reports

MeSH terms

Female
Humans
Infant
Magnetic Resonance Spectroscopy
Mutation
Neurochemistry*
SKP Cullin F-Box Protein Ligases / genetics
Spasms, Infantile* / diagnostic imaging
Spasms, Infantile* / genetics

Substances

FBXO28 protein, human
SKP Cullin F-Box Protein Ligases