Assuntos
Hiperlipoproteinemia Tipo IV/diagnóstico , Lipase Lipoproteica/deficiência , Feminino , Humanos , Hiperlipoproteinemia Tipo IV/sangue , Hiperlipoproteinemia Tipo IV/genética , Hiperlipoproteinemia Tipo IV/terapia , Recém-Nascido , Lipase Lipoproteica/genética , Proteínas do Leite/uso terapêutico , MutaçãoRESUMO
Involuntary movements can appear before and after initiation of vitamin B12 treatment. The pathogenesis of involuntary movements in vitamin B12 deficiency and their relationship with cobalamin injection remain unclear due to a lack of video-EEG documentation making the electroclinical correlation difficult to ascertain. Here, we report video-EEG and neuroimaging findings of an 11-month-old girl with vitamin B12 deficiency, who acutely developed involuntary movements a few days after initiation of vitamin B12 treatment with normal vitamin plasmatic levels. Abnormal movements were a combination of tremor and myoclonus involving the face, mouth, and left arm, which disappeared after discontinuation of therapy. [Published with video sequences].
