Nota Clínica

Acute presentation of leukodystrophy due to mitochondrial cytopathy and multiple deletions of mitochondrial DNA

J. Rábano, A. Playán, F. Guirado, J. Montoya, A. Baldellou-Vázquez, J. López-Pisón DOI: https://doi.org/10.33588/rn.27160.98121

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Volumen 27 | Number 160 | Nº of views of the article 8.677 | Nº of PDF downloads 536 | Article publication date 01/12/1998

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ABSTRACT

INTRODUCTION Deletions of mitochondrial DNA (mtDNA) are a known cause of various mitochondrial cytopathies, which are sporadic and usually not due to maternal transmission. The multiple deletions are usually transmitted on a Mendelian pattern, and are frequently of autosomal dominant character. Leukodystrophy may be part of the picture, or even the form of presentation, of some mitochondrial cytopathies. Thus, in a case of leukoencephaly of unknown origin, mitochondrial cytopathy should be considered in the differential diagnosis. CLINICAL CASE. We present the case of a boy with no previous clinical abnormalities who, at the age of 13, suddenly fell to the floor with an encephalopathy which required aggressive treatment, needing mechanical ventilation and prolonged sedation. Following partial recovery spastic-dystonic quadriplegia remained. Neuroimaging showed advanced leukodystrophy with small hemorrhages in the white matter, which later disappeared. After rejecting other aetiologies, mitochondrial cytopathies in muscle were studied. A partial defect of the I and IV complexes of the respiratory chain and two deletions of mtDNA were shown.

CONCLUSIONS This case is another example of the variable clinical presentation of mitochondrial cytopathies and yet another argument for their inclusion in the diagnosis of leukodystrophy of unknown origin KeywordsAcute onset Leukodystrophy Mitochondrial cytopathy Multiple defects of mitochondrial DNA Respiratory chain defects CategoriesNervios periféricos, unión neuromuscular y músculo

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Nota Clínica

Acute presentation of leukodystrophy due to mitochondrial cytopathy and multiple deletions of mitochondrial DNA

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