Abstract
Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Only few cases have been reported earlier in literature. We report a case of biotin-responsive basal ganglia disease suspected clinically, corroborated by neuroimaging and a dramatic response to biotin therapy.
MeSH terms
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Basal Ganglia Diseases / diagnosis
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Basal Ganglia Diseases / drug therapy*
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Basal Ganglia Diseases / pathology
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Biotin / therapeutic use*
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Brain / pathology
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Child
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Diagnosis, Differential
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Female
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Follow-Up Studies
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Humans
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Magnetic Resonance Imaging
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Myoclonic Epilepsies, Progressive / diagnosis
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Myoclonic Epilepsies, Progressive / drug therapy*
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Myoclonic Epilepsies, Progressive / pathology
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Vitamin B Complex / therapeutic use*