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

Davide Tonduti1,2, Eleonora Mura3,4, Silvia Masnada3,4

  • 1Child Neurology Unit,V. Buzzi Children's Hospital, Milano, Italy. davide.tonduti@asst-fbf-sacco.it.

Journal of Human Genetics
|March 31, 2021
PubMed

Insights

Mutations in TMEM63A cause infantile-onset transient hypomyelination, a condition mimicking Pelizaeus-Merzbacher Disease but with a benign, improving course. New findings may aid early diagnosis and differentiation from PMD.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Infantile-onset transient hypomyelination (IOT H) is a rare genetic disorder.
  • It is caused by monoallelic mutations in the TMEM63A gene.
  • IOT H presents clinically and neuroradiologically similar to Pelizaeus-Merzbacher Disease (PMD).

Observation:

  • A novel case of a TMEM63A-mutated girl with IOT H is presented.
  • Clinical presentation included recurrent unilateral eyelid twitching.
  • Spinal cord involvement was detected via MRI.

Findings:

  • The reported case shares similarities with previously described IOT H patients.
  • New distinguishing features, including eyelid twitching and spinal cord lesions, were observed.
  • These findings may help differentiate IOT H from classic PMD in early stages.

Implications:

  • Early identification of TMEM63A mutations can aid in diagnosing IOT H.
  • Observed clinical and radiological features may serve as diagnostic markers for IOT H.
  • Further research is needed to confirm the prevalence of these features in IOT H and their utility in distinguishing it from PMD.

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