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Case Reports
. 2021 Oct;66(10):1035-1037.
doi: 10.1038/s10038-021-00921-1. Epub 2021 Mar 30.

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation

Davide Tonduti  1   2 , Eleonora Mura  3   4 , Silvia Masnada  3   4 , Enrico Bertini  5 , Chiara Aiello  5 , Daniela Zini  6 , Lucio Parmeggiani  7 , Gaetano Cantalupo  8 , Giacomo Talenti  9 , Pierangelo Veggiotti  3   4   10 , Luigina Spaccini  4   11 , Maria Iascone  12 , Cecilia Parazzini  4   13
Affiliations
Case Reports

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation

Davide Tonduti et al. J Hum Genet. 2021 Oct.

Abstract

Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time was surprisingly benign with a progressive spontaneous improving course. We report on a new TMEM63A-mutated girl. The clinical picture was similar to the one already described except for the presence of recurrent episodes of unilateral eyelid twitching, and for the evidence of spinal cord involvement on MRI. These are interesting findings helping in distinguishing this condition from classic PMD since early disease stages. However, additional observations are needed to confirm if these are common features of this condition.

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