Leigh’s disease (subacute necrotising encephalo myelopathy): a rare mitochondrial disorder

Sheesham Agarwal, Nikita Tripathi, Anurag Singh, Suresh Verma


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.


Leigh’s disease, MRI, Magnetic resonance spectrometry

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