Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/23068
Title: Neuronal Ceroid Lipofuscinosis type 2: an Australian case series.
Authors: Johnson, Alexandra M;Mandelstam, Simone;Andrews, Ian;Boysen, Katja;Yaplito-Lee, Joy;Fietz, Michael;Nagarajan, Lakshmi;Rodriguez-Casero, Victoria;Ryan, Monique M;Smith, Nicholas;Scheffer, Ingrid E;Ellaway, Carolyn
Affiliation: Imaging and Epilepsy Group, The Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
Genetic Metabolic Disorders Service, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia
Disciplines of Genetic Medicine and Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia
Department of Radiology, University of Melbourne, Melbourne, Victoria, Australia
Department of Paediatric Radiology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia
Murdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia
Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia
Department of Neurology, Austin Health, Heidelberg, Victoria, Australia
Imaging and Epilepsy Group, Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
Department of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, South Australia, Australia
Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Children's Neuroscience Service, Perth Children's Hospital, Perth, Western Australia, Australia
Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australia
Clinical Informatics, Illumina Australia, Melbourne, Victoria, Australia
Diagnostic Genomics, PathWest Laboratory Medicine WA, Perth, Western Australia, Australia
National Referral Laboratory, SA Pathology, Adelaide, South Australia, Australia
Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia
Issue Date: 24-Apr-2020
EDate: 2020-04-24
Citation: Journal of paediatrics and child health 2020; online first: 24 April
Abstract: Late 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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/23068
DOI: 10.1111/jpc.14890
ORCID: 0000-0003-0997-0372
0000-0002-2311-2174
PubMed URL: 32329550
Type: Journal Article
Subjects: cerebellar atrophy
cerebral atrophy
ceroid lipofuscinosis type 2 disease
epilepsy
language delay
magnetic resonance imaging
Appears in Collections:Journal articles

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