CLINICAL EXPERIENCE OF NEUROLOGICAL
MITOCHONDRIAL DISEASES IN CHILDREN AND ADULTS:
A SINGLE-CENTER STUDY Rogac M1,*, Neubauer D2, Leonardis L3, Pecaric N4, Meznaric M5, Maver A1,
Sperl W6, Garavaglia BM7, Lamantea E7, Peterlin B1 *Corresponding Author: Mihael Rogac, M.D., Ph.D., Clinical Institute of Genomic Medicine, University
Medical Center Ljubljana, Slajmerjeva 4, 1000 Ljubljana, Slovenia. Tel: +386-1-522-6078. Fax:
+386-1-540-1137. E-mail: mihael.rogac@kclj.si page: 1 download article in pdf format
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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 moleculargenetic
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.
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