Pelizaeus-Merzbacher disease with thiamine deficiency or Leigh disease with extensive involvement of white matter? Case report.

We report on a case of a 30-month-old child who presented with a clinical syndrome compatible with leucodystrophy and in whom neuropathological features of both Pelizaeus-Merzbacher disease and subacute necrotizing encephalopathy were shown. The significance of the neuropathological findings is discussed in the light of a possible coexistence of both diseases which has not previously been reported.