PMC9875587_01
Diagnostic findings in a patient with FASTKD2 related mitochondrial disease presenting with new onset refractory status epilepticus (NORSE).
fneur-13-1063733-g0001.jpg
PMC9875587_05_fneur-13-1063733-g0001.jpg
F1
Timeline: Clinical course of a patient with FASTKD2 related mitochondrial disease.
fneur-13-1063733-g0002.jpg
PMC9875587_06_fneur-13-1063733-g0002.jpg
F2
Structural MRI according to the in-house epilepsy protocol revealed an extensive right hemispheric atrophy involving mesiotemporal, neocortical temporal, pericentral, and parieto-occipital regions with correlating hypometabolism in fluorodeoxyglucose (FDG)-positron emission tomography (PET) (Figure 2). Oxidative phosphorylation (OXPHOS) was evaluated in fresh muscle and skin fibroblasts (Figure 2). No decrease in either basal or maximal respiration could be detected (Figure 2). Considering the patient's medical history and clinical findings, genetic testing was extended (Figure 2). Both parents are heterozygous carriers of this variant (Figure 2).
PMC9875587_02
Timeline: Clinical course of a patient with FASTKD2 related mitochondrial disease.
fneur-13-1063733-g0002.jpg
PMC9875587_06_fneur-13-1063733-g0002.jpg
F2
Structural MRI according to the in-house epilepsy protocol revealed an extensive right hemispheric atrophy involving mesiotemporal, neocortical temporal, pericentral, and parieto-occipital regions with correlating hypometabolism in fluorodeoxyglucose (FDG)-positron emission tomography (PET) (Figure 2). Oxidative phosphorylation (OXPHOS) was evaluated in fresh muscle and skin fibroblasts (Figure 2). No decrease in either basal or maximal respiration could be detected (Figure 2). Considering the patient's medical history and clinical findings, genetic testing was extended (Figure 2). Both parents are heterozygous carriers of this variant (Figure 2).
PMC9875587_03
Timeline: Clinical course of a patient with FASTKD2 related mitochondrial disease.
fneur-13-1063733-g0002.jpg
PMC9875587_06_fneur-13-1063733-g0002.jpg
F2
Structural MRI according to the in-house epilepsy protocol revealed an extensive right hemispheric atrophy involving mesiotemporal, neocortical temporal, pericentral, and parieto-occipital regions with correlating hypometabolism in fluorodeoxyglucose (FDG)-positron emission tomography (PET) (Figure 2). Oxidative phosphorylation (OXPHOS) was evaluated in fresh muscle and skin fibroblasts (Figure 2). No decrease in either basal or maximal respiration could be detected (Figure 2). Considering the patient's medical history and clinical findings, genetic testing was extended (Figure 2). Both parents are heterozygous carriers of this variant (Figure 2).
PMC9875587_04
Diagnostic findings in a patient with FASTKD2 related mitochondrial disease presenting with new onset refractory status epilepticus (NORSE).
fneur-13-1063733-g0001.jpg
PMC9875587_05_fneur-13-1063733-g0001.jpg
F1
PMC9875587_05
Diagnostic findings in a patient with FASTKD2 related mitochondrial disease presenting with new onset refractory status epilepticus (NORSE).
fneur-13-1063733-g0001.jpg
PMC9875587_05_fneur-13-1063733-g0001.jpg
F1
PMC9875587_06
Timeline: Clinical course of a patient with FASTKD2 related mitochondrial disease.
fneur-13-1063733-g0002.jpg
PMC9875587_06_fneur-13-1063733-g0002.jpg
F2
Structural MRI according to the in-house epilepsy protocol revealed an extensive right hemispheric atrophy involving mesiotemporal, neocortical temporal, pericentral, and parieto-occipital regions with correlating hypometabolism in fluorodeoxyglucose (FDG)-positron emission tomography (PET) (Figure 2). Oxidative phosphorylation (OXPHOS) was evaluated in fresh muscle and skin fibroblasts (Figure 2). No decrease in either basal or maximal respiration could be detected (Figure 2). Considering the patient's medical history and clinical findings, genetic testing was extended (Figure 2). Both parents are heterozygous carriers of this variant (Figure 2).
PMC9875587_07