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Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation

I Desguerre1, F Pinton, R Nabbout

  • 1Service de Neuropédiatrie, Hôpital Saint Vincent de Paul, 74 Avenue Denfert-Rochereau, 75014 Paris, France. isabelle.desguerre@nck.ap-hop-paris.fr

Neuropediatrics
|November 5, 2003
PubMed

Insights

Infantile spasms (IS) can arise from basal ganglia lesions, not just cortical damage, in Leigh-like syndrome caused by T8993G mt DNA mutations. This suggests West syndrome may involve dysfunction in cortico-putaminal pathways.

Area of Science:

  • Mitochondrial genetics
  • Neuroscience
  • Pediatric neurology

Background:

  • Mitochondrial DNA (mtDNA) mutations, specifically T8993G, are linked to Leigh-like syndrome.
  • Infantile spasms (IS) with hypsarrhythmia typically suggest cortical abnormalities.

Observation:

  • Three cases of infantile spasms (IS) presented with abnormal basal ganglia MRI signals.
  • Clinical manifestations included IS, behavioral changes, axial hypotonia, and dystonia.
  • All patients exhibited hyperlactatorrhachia and later developed neuropathy and retinopathy.

Findings:

  • T8993G mtDNA mutation was identified as the cause.
  • Video EEG confirmed spasms and hypsarrhythmia, with no other seizure types.
  • Treatment with vigabatrin or steroids effectively controlled spasms over several years.

Implications:

  • Symptomatic IS and hypsarrhythmia can originate from basal ganglia lesions, challenging the cortical lesion paradigm.
  • West syndrome may result from age-related dysfunction within the cortico-putaminal loop.
  • This expands the understanding of the pathophysiology of infantile spasms and related epileptic encephalopathies.
Abstract

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