Neurological Sciences

, Volume 39, Issue 12, pp 2225–2228 | Cite as

Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation

  • Yanping WeiEmail author
  • Lin Wang
Letter to the Editor

Dear Editor,

Leigh syndrome (LS) is a progressive neurodegenerative disorder with uniform radiological and neuropathological changes and typically manifests in infants or young children [1]. Occasionally, adult-onset cases of LS have been reported with clinical and genetic heteroplasmy [1]. Rarely, LS presents with peripheral neuropathy, which may be the predominant symptom in some cases [2]. Although the incidence of electrophysiologic abnormalities is reportedly high, the clinical symptoms have only occasionally been reported [2]. 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 [1]. 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...


Compliance with ethical standards

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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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of NeurologyPeking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijingChina

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