Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.

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Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

Cited by 41 publications

References 29 publications

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

Leigh Syndrome: A Rare Mitrochondrial Disorder

A rare mitochondrial disorder: Leigh syndrome - a case report

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