Mario Barbarini

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A full-term 9-day-old girl presented with fever, irritability, and seizures. The routine CSF examination, cranial ultrasound, and laboratory tests were normal. Brain MRI showed diffuse white matter abnormality (figure). Human parechovirus (HPeV) type 3 was isolated in both CSF and blood. The neurodevelopmental outcome at 4 months is poor, and MRI shows an(More)
Early myoclonic encephalopathy (EME) presents in neonatal period with erratic or fragmentary myoclonus and a burst-suppression electroencephalography (EEG) pattern. Nonketotic hyperglycinemia (NKH) is the most common metabolic cause of EME and genetic testing confirms the diagnosis of NKH in around 75% of the patients with a clinical diagnosis of NKH. Three(More)
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