Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/23068
Full metadata record
DC FieldValueLanguage
dc.contributor.authorJohnson, Alexandra M-
dc.contributor.authorMandelstam, Simone-
dc.contributor.authorAndrews, Ian-
dc.contributor.authorBoysen, Katja-
dc.contributor.authorYaplito-Lee, Joy-
dc.contributor.authorFietz, Michael-
dc.contributor.authorNagarajan, Lakshmi-
dc.contributor.authorRodriguez-Casero, Victoria-
dc.contributor.authorRyan, Monique M-
dc.contributor.authorSmith, Nicholas-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorEllaway, Carolyn-
dc.date2020-04-24-
dc.date.accessioned2020-04-28T23:20:03Z-
dc.date.available2020-04-28T23:20:03Z-
dc.date.issued2020-04-24-
dc.identifier.citationJournal of paediatrics and child health 2020; online first: 24 April-
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/23068-
dc.description.abstractLate infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2-4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a range of common epilepsies. We aim to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages. We present a series of 13 Australian patients with CLN2 disease, describing clinical features, disease evolution, neuroimaging, electroencephalogram, biochemical and genetic results. Expert neuroradiological magnetic resonance imaging (MRI) analysis was retrospectively performed on 10 cases. Twelve patients presented with seizures, with initial seizures being focal (n = 4), generalised tonic-clonic (n = 3), absence (n = 3) and febrile (n = 2). Eleven patients (85%) had a language delay before the onset of seizures. Cerebellar or cerebral atrophy was noted in all patients on centralised MRI review, with abnormalities of the brain-stem, ventricles, corpus callosum and hippocampi. Early language delay with the onset of seizures at 2-4 years of age is the hallmark of CLN2 disease. MRI findings of early subtle atrophy in the cerebellum or posterior cortical regions should hasten testing for CLN2 disease to enable early initiation of enzyme replacement therapy.-
dc.language.isoeng-
dc.subjectcerebellar atrophy-
dc.subjectcerebral atrophy-
dc.subjectceroid lipofuscinosis type 2 disease-
dc.subjectepilepsy-
dc.subjectlanguage delay-
dc.subjectmagnetic resonance imaging-
dc.titleNeuronal Ceroid Lipofuscinosis type 2: an Australian case series.-
dc.typeJournal Article-
dc.identifier.journaltitleJournal of paediatrics and child health-
dc.identifier.affiliationImaging and Epilepsy Group, The Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australiaen
dc.identifier.affiliationGenetic Metabolic Disorders Service, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australiaen
dc.identifier.affiliationDisciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australiaen
dc.identifier.affiliationDepartment of Radiology, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatric Radiology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationMurdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medicine, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology, Austin Health, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationImaging and Epilepsy Group, Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, South Australia, Australiaen
dc.identifier.affiliationAdelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationChildren's Neuroscience Service, Perth Children's Hospital, Perth, Western Australia, Australiaen
dc.identifier.affiliationFaculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australiaen
dc.identifier.affiliationClinical Informatics, Illumina Australia, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDiagnostic Genomics, PathWest Laboratory Medicine WA, Perth, Western Australia, Australiaen
dc.identifier.affiliationNational Referral Laboratory, SA Pathology, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australiaen
dc.identifier.doi10.1111/jpc.14890-
dc.identifier.orcid0000-0002-2311-2174en
dc.identifier.orcid0000-0003-0997-0372en
dc.identifier.pubmedid32329550-
dc.type.austinJournal Article-
Appears in Collections:Journal articles
Show simple item record

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.