case_images: PMC11802652_01
case_images: Before miglustat treatment. The video shows the clinical features of the patient before therapy: stimulus-sensitive myoclonus, action myoclonus, and ataxia gait were the main features. Jerks were asynchronous, variable in severity and amplitude, amplified by light and emotional stimuli, and affected writing and sitting. She needed 2 hands during water-pouring maneuvers to reduce water spillage. Gait was slow and wide based. In addition, dysmetria was observed.. Six months after miglustat treatment. Six months after miglustat treatment, the video shows improvement in both stimulus-sensitive and action myoclonus; dysmetria and gait ameliorated: the patient was able to walk faster. Writing still presented myoclonus features, slightly reduced in the right hand.. Twelve months after miglustat treatment. Twelve months after miglustat treatment, the video shows stable improvement in dysmetria and action myoclonus. The patient used 1 hand during water-pouring maneuvers, spilling only when using the left hand.. Eighteen months after miglustat treatment. Eighteen months after miglustat treatment, the video shows stable improvement in stimulus-sensitive and action myoclonus, and right-hand writing. Conversely, myoclonus at rest was still present.. Twenty-four months after miglustat treatment. Twenty-four months after miglustat treatment, the video shows a stable image: improvement in stimulus-sensitive and action myoclonus, dysmetria, writing, and water pouring was still observed. Gait was wide based but faster and less unstable. The patient appears thinner due to the initial miglustat-related side effects. However, the weight has remained stable during the past 6 months.
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case_images: PMC11802652_01_.jpg
case_images: mdc314273-fig-0003
case_images: The neurophysiological recordings revealed limbs' action myoclonus during motor tasks, rest myoclonus (Fig. 1A), and stimulus-sensitive myoclonus (noise: Fig. 1B, intermittent light: Fig. 1C), not associated with electroencephalogram spikes at back-averaging analysis. Cortical excitability (Fig. 1D,E) and brain magnetic resonance imaging (Fig. 1F) were normal.
case_images: (A-C) Electroencephalography: myoclonus at rest (A) and stimulus-sensitive myoclonus to noise (B) and intermittent light (C). Myoclonus were asynchronous, without EEG (electroencephalogram) spikes at back-averaging analysis, and with variable burst durations of 50 to 300 msec. (D) Somatosensory evoked potential (SEP): normal central conduction time and morphology (lack of giant SEP). (E) Long-latency reflex (LLR): normal occurrence of F waves, without the C response (normal). (F) Brain MRI (magnetic resonance imaging): FLAIR (fluid-attenuated inversion recovery) and T2 images show normal brain atrophy and no abnormalities.
case_images: MDC3-12-231-g002.jpg
case_images: PMC11802652_01_MDC3-12-231-g002.jpg
case_images: mdc314273-fig-0001
case_images: During follow-up, creatinine, estimated Glomerular Filtration Rate (eGFR), and proteinuria levels remained stable (Fig. 2B), and action myoclonus gradually improved on the Unified Myoclonus Rating Scale (Fig. 2A,C; Videos 2, 3, 4, 5), regaining independence in walking and feeding (Videos 2 and 5).