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.

Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation / D. Tonduti, E. Mura, S. Masnada, E. Bertini, C. Aiello, D. Zini, L. Parmeggiani, G. Cantalupo, G. Talenti, P. Veggiotti, L. Spaccini, M. Iascone, C. Parazzini. - In: JOURNAL OF HUMAN GENETICS. - ISSN 1434-5161. - (2021). [Epub ahead of print]

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

D. Tonduti
;
E. Mura
Secondo
;
P. Veggiotti;
2021

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.
Settore MED/39 - Neuropsichiatria Infantile
mar-2021
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/838530
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