Leigh’s disease (subacute necrotising encephalo myelopathy): a rare mitochondrial disorder
Keywords:Leigh’s disease, MRI, Magnetic resonance spectrometry
Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. Raised lactate levels in blood and/or cerebrospinal fluid along with neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem confirms the diagnosis. MRS can also be used to detect raised level of Lactate. Here, we report a case of 11 months old female child who presented with seizures, delayed milestones and regression of the already achieved milestones with abnormal choreoathetoid movements and dystonia.
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