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Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
P de Lonlay-Debeney1, J C von Kleist-Retzow, L Hertz-Pannier
1Département de Génétique and INSERM U-393, Service de Radiologie Pédiatrique, Département de Pédiatrie, Hôpital Necker-Enfants Malades, Paris, France.
Abstract:
Several mitochondrial diseases are known to occasionally involve the cerebral white matter, namely Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome, but in these cases the major finding is alteration in the basal ganglia and brainstem. Here we report on severe diffuse white matter involvement and respiratory chain enzyme deficiency or mitochondrial DNA rearrangement in 5 unrelated families. It is interesting that white matter lesions were the only abnormal neuroradiologic feature in 3 of the 5 families, and multiple small cyst-like white matter lesions were found in 2 of 5 probands. Respiratory chain deficiency should be considered in the diagnosis of severe white matter involvement in childhood.
Insights
Mitochondrial diseases can cause severe white matter issues in children. Respiratory chain enzyme deficiency is a key factor to consider in diagnosing these brain conditions.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Neuroimaging
Background:
- Mitochondrial diseases like Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome typically affect basal ganglia and brainstem.
- Cerebral white matter involvement is less common and usually secondary in these conditions.
Observation:
- This study reports severe diffuse white matter involvement in five unrelated families.
- Neuroradiologic findings primarily showed white matter lesions, with some cases exhibiting only these abnormalities.
Findings:
- Five unrelated families presented with severe diffuse white matter involvement.
- Respiratory chain enzyme deficiency or mitochondrial DNA rearrangement were identified in affected individuals.
- White matter lesions were the sole abnormal neuroradiologic finding in three families, and cystic lesions in two.
Implications:
- Respiratory chain deficiency should be considered in the differential diagnosis of severe childhood white matter diseases.
- Highlights the potential primary role of mitochondrial dysfunction in certain white matter disorders.
- Suggests neuroimaging focusing on white matter may be crucial for diagnosing mitochondrial disorders in children.