TWO DIFFERENT SPECTRUM OF PRESENTATION OF LEIGHS SYNDROME IN SAME FAMILY -A RARE CASE REPORT
Dr. Jayalakshmi Pabbati*, Dr. Preethi Subramanian, Dr. Ravindranath, Dr. Raghava Rao, Dr. Divya Regina and Dr. Sadhana
Leigh syndrome is a progressive neurodegenerative disorder; begins most commonly in infants between the ages of three months and two years. It presents with variable clinical features like swallowing difficulties, developmental delay / regression, and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid and characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem on T2-weighted Magnetic resonance imaging of brain clinches the diagnosis. Here we report two siblings, who presented to us with different spectrum of clinical features.
Keywords: Leigh syndrome, clinical Features, Lactate, MRI Brain.
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