title: MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed.
abstract: MELAS is a rare mitochondrial disorder. We report two cases in Irish males where the characteristics were evident, but the diagnosis not made for a considerable period of time. In one of the cases the symptoms were presumed secondary to prematurity. In the other the symptoms were presumed secondary to epilepsy and he had three respiratory arrests secondary to benzodiazepine administration. This report wishes to highlight MELAS as a differential diagnosis in paediatric patients who present with stroke.
authors.affiliation: Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
authors.forename: N M
authors.initials: NM
authors.lastname: Quinn
authors.affiliation: Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
authors.forename: G
authors.initials: G
authors.lastname: Stone
authors.affiliation: Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
authors.forename: F
authors.initials: F
authors.lastname: Brett
authors.affiliation: Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
authors.forename: P
authors.initials: P
authors.lastname: Caro-Dominguez
authors.affiliation: Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
authors.forename: O
authors.initials: O
authors.lastname: Neylon
authors.affiliation: Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.
authors.forename: B
authors.initials: B
authors.lastname: Lynch
mesh_terms: D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D017241:MELAS Syndrome / Q000175:diagnosis*; D008297:Male