A rare mitochondrial disorder: Leigh syndrome--a case report.
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.
Shrikhande
Dhananjay Y
DY
Rural Medical College, Loni, Maharashtra, India.
Kalakoti
Piyush
P
Syed
M M Aarif
MM
Ahya
Kunal
K
Singh
Gurmeet
G
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