#5. sunshine manor developmental trial
A trial of pyridoxal-5-phosphate (P5P) and folinic acid showed no immediate improvement on EEG.ĬSF showed elevated threonine. Myoclonic jerks variably correlated with epileptiform abnormalities.
#5. sunshine manor developmental full
He had hypersomnolence, developed central apneas and also had feeding difficulties.Įxamination was notable for subtle facial dysmorphism including a high anterior hairline, mild hypotonic facies and full cheeks.ĮEG demonstrated a discontinuous background with frequent bursts of anterior sharp waves. Movements consisted of myoclonic jerks and dyskinesia affecting the limbs, face and diaphragm. O'rourke 1ġDepartment of Neurology, Children's University Hospital, Temple Street, Dublin, Ireland 2Department of Neonatology, National Maternity Hospital, Holles Street, Dublin, Ireland 3Department of Respiratory Medicine, Children's University Hospital, Temple Street, Dublin, Ireland 4Department of Neonatology, Children's University Hospital, Temple Street, Dublin, IrelandĪ term male newborn presented with severe hypotonia, respiratory difficulties, and seizure-like activity. S Macfarland 1, A Twomey 2, M Williamson 3, M Boyle 4, D. 002 PURA syndrome masquerading as pyridoxal-5-phosphate deficiency. In infants who were diagnosed to have abnormal EEG or seizure activity, there is an increased incidence of developmental delay and epilepsy later in life. This audit shows EEG practice has scope to be improved and a recommendation to undergo an EEG on every infant presenting with neonatal seizures. Of those who have electrographic seizures on EEG 8 (22%) patients died prior to discharge, 17 (46%) have developmental delay on follow up and 9 (24%) have normal development, with no epilepsy. Twenty patients in total have gone on to have a diagnosis of epilepsy, 19 of these had EEGs, 12 (63%) having seizure activity on this initial EEG, 5 (26%) had an abnormal EEG but no seizures seen and 2 (11%) patients had a normal EEG. 50% of patients that received maintenance anticonvulsants had seizure activity on EEG. Of these cases who had EEGs, 79 (73%) were reported as abnormal, with 37 (34%) showing electrographic seizure activity. There was no documented justification as to why EEGs had not been performed, although 3 patients had been on cerebral function monitoring (CFM). Of the 18 patients that did not have an EEG, 7 of them passed away prior to EEG.
An audit was performed with the standard all infants who clinically have seizures should have an EEG.ġ26 cases were found over 5 years, 108 (86%) of these had EEGs performed. Within the Royal Victoria Infirmary, it is suggested that any infant who presents with apparent clinical seizures during the neonatal period should have an EEG. EEG is an efficient and relatively inexpensive investigation to carry out however as it is a snap shot it can miss seizure activity. An electroencephalography (EEG) is suggested as part of the first line investigations. Neonatal seizures have an incidence of 1– live births 1. 001 The Neonatal Electroencephalography: Can it aid diagnosis, medication choices and prognosis?ġRoyal Victoria Infirmary, Newcastle Upon Tyne, UK
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