[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].
Mitochondrial diseases are due to deficiency of the respiratory chain and are characterized by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Some clinical presentations are highly suggestive of given gene mutations, allowing rapid genetic diagnosis. However, owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is frequently difficult and genotype/phenotype correlations remain elusive. For this reason, brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we report the most frequent neuroradiological signs in mitochondrial respiratory chain deficiency and we propose a diagnostic algorithm based on neuroimaging features, so as to direct molecular genetic tests in patients at risk of mitochondrial respiratory chain deficiency. This algorithm is based on the careful analysis of five areas on brain MRI: (1) basal ganglia (hyperintensities on T2 or calcifications); (2) cerebellum (hyperintensities on T2 or atrophy); (3) brainstem (hyperintensities on T2 or atrophy); (4) white matter (leukoencephalopathy); (5) cortex (sub-tentorial atrophy); (6) stroke-like episodes. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.
Service de radiologie pédiatrique, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France. Electronic address: marine.bricout@orange.fr.
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Devaux-Bricout
Service de radiologie pédiatrique, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Grévent
Unités génétiques, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Lebre
Unités génétiques, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Rio
Service de neurologie, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Desguerre
Service de neurologie, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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De Lonlay
Service de neurologie, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Valayannopoulos
Service de radiologie pédiatrique, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Brunelle
Unités génétiques, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France; Institut Imagine, 156, rue Vaugirard, 75015 Paris, France.
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Rötig
Unités génétiques, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France; Institut Imagine, 156, rue Vaugirard, 75015 Paris, France.
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Munnich
Service de radiologie pédiatrique, hôpital Necker-Enfants-Malades, Inserm U781 et U1000, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
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Boddaert
D000465:Algorithms; D001921:Brain / Q000473:pathology; D003663:Decision Trees; D004579:Electron Transport / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D059906:Neuroimaging / Q000379:methods*
Algorithme décisionnel; Brain MRI; Diagnostic algorithm; IRM cérébrale; Mitochondrial respiratory chain deficiency; Mitochondriopathie