Year: 2016
Type: article
Study design: Case Report
Abstract: 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.
Authors: Sheesham Agarwal, Nikita Tripathi, Anurag Singh, Suresh Verma
Language: ceb
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2483615496