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Teaching NeuroImages: When MRI is a clue in episodic ataxia

A 3-year-old girl presented with episodic ataxia for the past month. It lasted for 1–2 days continuously after a febrile illness. MRI was suggestive of a neurometabolic disorder (figure, A–L). Plasma valine and leucine and urinary branched-chain aminoacids were elevated. Clinical exome revealed a homozygous, missense, pathogenic variation in BCKDHB gene (exon 5, chr6:80878686A>C; p.His191Pro).



from Neurology recent issues https://ift.tt/33kkWWY
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