Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease

Abstract

Variants in SURF1, encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradiological and neurophysiologic findings in a child with LS and demyelinating neuropathy SURF1-related. Our case underlines the potential contributive role of spinal neuroimaging together with neurophysiological examination to identify the full spectrum of patterns in MDs. It remains to elucidate if these observations remain peculiar of SURF1 variants or potentially detectable in other MDs with peripheral nervous system involvement.

Keywords

Leigh syndrome - spine MRI - inherited peripheral neuropathy - mitochondrial diseases - SURF1

Ethical Approval

No experimental procedure was performed, but only the investigations required by clinical practice. Therefore, it was not needed to submit the case to the approval of the Ethics Committee. Clinical investigations were conducted according to the principles expressed in Declaration of Helsinki.

Patient Consent

Informed consent was acquired from parents of the patient both for the diagnostic procedures required for diagnosis and for the use of data for scientific purposes in respect of privacy.

Authors' Contributions

A.R. and G.B. designed and conceptualized the study and drafted the manuscript. F.M., M.F.d.L., and L.R. drafted manuscript and figures. A.V. and F.M.S. reviewed and edited the manuscript. All authors have read and approved the final version of the manuscript.

^* These authors contributed equally at the work.

Publikationsverlauf

Eingereicht: 21. März 2021

Angenommen: 22. September 2021

Artikel online veröffentlicht:
01. Dezember 2021

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