Expanding the spectrum of neonatal-onset AIFM1-associated disorders.

ABSTRACT:

Objectives

Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1-related disorders.

Methods

We performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) and family study. Effects of the variant were established on cultured fibroblasts from skin punch biopsy.

Results

The patient presented with drug-resistant, electro-clinical, multifocal seizures 6 h after birth. Brain MRI revealed prominent brain swelling of both hemispheres and widespread signal alteration in large part of the cortex and of the thalami, with sparing of the basal nuclei. CES

SUBMITTER: Zambon AA 

PROVIDER: S-EPMC10578896 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature