Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation
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Leigh syndrome (LS) is a progressive neurodegenerative disorder with uniform radiological and neuropathological changes and typically manifests in infants or young children . Occasionally, adult-onset cases of LS have been reported with clinical and genetic heteroplasmy . Rarely, LS presents with peripheral neuropathy, which may be the predominant symptom in some cases . Although the incidence of electrophysiologic abnormalities is reportedly high, the clinical symptoms have only occasionally been reported . Central fever refers to loss of physiological regulation of body temperature due to a hypothalamus lesion. Although the hypothalamus can be affected by LS, central fever has not been reported.
The inheritance of LS is complex and can be autosomal recessive, X-linked, or maternal . Here, we report an unusual case of adult-onset LS due to m.9176T>C mutation in a patient who presented with progressive encephalopathy, peripheral neuropathy, and central...
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We confirm that we have received the patient’s father’s consent in writing for the publication of this case.
Conflict of interest
The authors declare that they have no conflict of interest.
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