title: A rare mitochondrial disorder: Leigh syndrome--a case report.
abstract: 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.
authors.affiliation: Rural Medical College, Loni, Maharashtra, India.
authors.forename: Dhananjay Y
authors.initials: DY
authors.lastname: Shrikhande
authors.forename: Piyush
authors.initials: P
authors.lastname: Kalakoti
authors.forename: M M Aarif
authors.initials: MM
authors.lastname: Syed
authors.forename: Kunal
authors.initials: K
authors.lastname: Ahya
authors.forename: Gurmeet
authors.initials: G
authors.lastname: Singh
mesh_terms: D001921:Brain / Q000473:pathology; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D019586:Intracranial Hypertension / Q000209:etiology; D007888:Leigh Disease / Q000175:diagnosis* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D012021:Reflex, Abnormal; D012640:Seizures / Q000209:etiology