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[Familial mitochondrial encephalopathy. A clinicopathologic study].
B Estournet1, C Duyckaerts, C Marsac
1Service de Réanimation Pédiatrique, Hôpital R. Poincaré, Garches.
Revue Neurologique
|January 1, 1991
Summary
This study details two siblings with a rare progressive encephalopathy, presenting with neurological decline, vision/hearing loss, and ataxia. Pathological findings suggest similarities to Leigh disease and MERRF syndrome, with confirmed cytochrome c oxidase deficiency.
Area of Science:
- Neuroscience
- Genetics
- Mitochondrial Diseases
Background:
- Progressive encephalopathies are debilitating neurological disorders.
- Leigh disease and Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are known mitochondrial disorders with overlapping features.
Observation:
- Two siblings presented with a severe progressive encephalopathy starting at age six.
- Clinical manifestations included myoclonus, seizures, cerebellar ataxia, optic atrophy, retinal degeneration, deafness, and dysphagia.
- Intellectual functions were relatively spared despite the severe neurological deficits.
Findings:
- Autopsy revealed bilateral, symmetrical lesions in the thalami, colliculi, and pontine/medullar tegmentum, resembling Leigh disease.
- Neuronal loss and gliosis were observed in the dentate nucleus and inferior olive, characteristic of MERRF syndrome.
- Cytochrome c oxidase deficiency was confirmed in muscle and cultured fibroblasts of the second sibling.
Implications:
- This case series highlights a potential novel or variant mitochondrial disorder with features overlapping Leigh disease and MERRF.
- Understanding the genetic and biochemical basis of this condition is crucial for diagnosis and potential therapeutic strategies.
- Further research into mitochondrial dysfunction in progressive encephalopathies is warranted.