John Libbey Eurotext

Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity Volume 23, issue 5, October 2021

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Authors
1 Neuropediatric Unit, Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal
2 Neurophysiology Unit, Department of Neurology, Centro Hospitalar Universitário de São João, Porto, Portugal
3 Neurogenetics Unit, Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal
* Correspondence: Vanessa Alexandra Oliveira Gorito Department of Pediatrics, Centro Hospitalar Universitário de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

A 14-day-old male, born at term after an uneventful delivery, was admitted to our hospital due to feeding difficulties, failure to thrive and a 9% weight loss in relation to the birth weight. Family history was unremarkable, with no parental consanguinity. Physical examination revealed microcephaly, retrognathia, appendicular hypertonia and hyperreflexia. During admission, frequent focal myoclonus was noticed, occurring spontaneously and involving the head or any of the limbs. Continuous video-EEG [...]