• Biotin-Thiamine-Responsive Basal Ganglia Disease - A treatable metabolic disorder

    4 monthes ago - By Pediatric Neurology

    A two-year-old girl presented with excessive sleepiness, inability to walk, ptosis, irritability and tonic posturing of extremities for nine days. There was no history of fever or recent illness. Magnetic resonance imaging of the brain was done , and the patient was treated as a case of acute disseminated encephalomyelitis with intravenous immunoglobulin and pulse steroids. Lactate peak on magnetic resonance spectroscopy raised suspicion of mitochondrial disease. Repeat imaging three weeks later showed improvement, and the patient returned to baseline.
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