[Mitochondrial leukoencephalopathy of infancy: is it an early expression of XXXX ?].

@entity1 @entity8433 @entity8431 @entity209 @entity21 @entity2388 @entity2383
INTRODUCTION: @entity8433 is probably the most frequent @entity209 in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological @entity21 , is an unusual manifestation of the disease. OBJECTIVE: Four @entity1 who presented the disease during the first year of life are described. @entity1 AND METHODS: The four @entity1 presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary @entity8431 . Increased values of lactic and piruvic acids suggested a @entity2383 . Enzymatic studies confirmed a mitochondrial @entity2383 in two @entity1 , and a @entity2388 dehydrogenase complex defect in the remaining two @entity1 . The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of @entity8433 , but with atypical distribution. CONCLUSION: Diagnosis of @entity8433 must be taken into consideration in @entity1 presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.
