<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience. Neurological clinical examination, brain magnetic resonance imaging (MRI) and spectroscopy, muscle biopsy, metabolic and molecular-genetic analysis were evaluated in 26 children and 36 adult patients with MD in Slovenia from 2004 to 2018. Nijmegen MD criteria (MDC) were applied to all patients and the need for a muscle biopsy was estimated. Exome-sequencing was used in half of the patients. Twenty children (77.0%) and 12 adults (35.0%) scored a total of ≥8 on MDC, a result that is compatible with the diagnosis of definite MD. Yield of exome-sequencing was 7/22 (31.0%), but the method was not applied systematically in all patients from the beginning of diagnostics. Brain MRI morphological changes, which can be an imaging clue for the diagnosis of MD, were found in 17/24 children (71.0%). In 7/26 (29.0%) children, and in 20/30 (67.0%) adults, abnormal mitochondria were found on electron microscopy (EM) and ragged-red fibers were found in 16/30 (53.0%) adults. Respiratory chain enzymes (RCEs) and/or pyruvate dehydrogenase complex (PDHc) activities were abnormal in all the children and six adult cases. First, our data revealed that MDC was useful in the clinical diagnosis of MD, and second, until the use of NGS methods, extensive, laborious and invasive diagnostic procedures were performed to reach a final diagnosis. In patients with suspected MD, there is a need to prioritize molecular diagnosis with the more modern next-generation sequencing (NGS) method.</p>
</abstract>

The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience. Neurological clinical examination, brain magnetic resonance imaging (MRI) and spectroscopy, muscle biopsy, metabolic and molecular-genetic analysis were evaluated in 26 children and 36 adult patients with MD in Slovenia from 2004 to 2018. Nijmegen MD criteria (MDC) were applied to all patients and the need for a muscle biopsy was estimated. Exome-sequencing was used in half of the patients. Twenty children (77.0%) and 12 adults (35.0%) scored a total of ≥8 on MDC, a result that is compatible with the diagnosis of definite MD. Yield of exome-sequencing was 7/22 (31.0%), but the method was not applied systematically in all patients from the beginning of diagnostics. Brain MRI morphological changes, which can be an imaging clue for the diagnosis of MD, were found in 17/24 children (71.0%). In 7/26 (29.0%) children, and in 20/30 (67.0%) adults, abnormal mitochondria were found on electron microscopy (EM) and ragged-red fibers were found in 16/30 (53.0%) adults. Respiratory chain enzymes (RCEs) and/or pyruvate dehydrogenase complex (PDHc) activities were abnormal in all the children and six adult cases. First, our data revealed that MDC was useful in the clinical diagnosis of MD, and second, until the use of NGS methods, extensive, laborious and invasive diagnostic procedures were performed to reach a final diagnosis. In patients with suspected MD, there is a need to prioritize molecular diagnosis with the more modern next-generation sequencing (NGS) method.

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study

Department of Child, Adolescent and Developmental Neurology, Children's Hospital

Institute of Clinical Neurophysiology, Division of Neurology

Institute of Anatomy, Faculty of Medicine

Salzburger Landeskliniken and Paracelsus Medical University

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience....

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study

Article Category: Original Article

Publicado en línea: 05 jun 2022

Páginas: 5 - 14

DOI: https://doi.org/10.2478/bjmg-2021-0019

Palabras clave
Exome-sequencing, Magnetic resonance imaging (MRI), Mitochondrial disease (MD), Nijmegen mitochondrial disease criteria (MDC), Muscle biopsy

© 2021 M Rogac et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study

Article Category: Original Article

Publicado en línea: 05 jun 2022

Páginas: 5 - 14

DOI: https://doi.org/10.2478/bjmg-2021-0019

Palabras claveExome-sequencing, Magnetic resonance imaging (MRI), Mitochondrial disease (MD), Nijmegen mitochondrial disease criteria (MDC), Muscle biopsy

© 2021 M Rogac et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
Exome-sequencing, Magnetic resonance imaging (MRI), Mitochondrial disease (MD), Nijmegen mitochondrial disease criteria (MDC), Muscle biopsy