Evidence map›Paper›PMID 32329550›Full record

ArticleJournal of paediatrics and child health2020

Neuronal ceroid lipofuscinosis type 2: an Australian case series.

Alexandra M Johnson, Simone Mandelstam, Ian Andrews, Katja Boysen, Joy Yaplito-Lee, Michael Fietz, Lakshmi Nagarajan, Victoria Rodriguez-Casero, Monique M Ryan, Nicholas Smith and 2 more

Open access · hybridAbstract read
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In one paragraph

Article in Journal of paediatrics and child health, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.4field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 28 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 6 institutions in 1 country.

Alexandra M JohnsonDepartment of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0003-0997-0372
Simone MandelstamDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Ian AndrewsDepartment of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
Katja BoysenDepartment of Paediatrics, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
Joy Yaplito-LeeDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Michael FietzClinical Informatics, Illumina Australia, Melbourne, Victoria, Australia.
Lakshmi NagarajanChildren's Neuroscience Service, Perth Children's Hospital, Perth, Western Australia, Australia.
Victoria Rodriguez-CaseroDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Monique M RyanDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Nicholas SmithDepartment of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
Ingrid E SchefferImaging and Epilepsy Group, The Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.
Carolyn EllawayGenetic Metabolic Disorders Service, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Royal Children's Hospital · AUSydney Children's Hospital · AUSouth Australia Pathology · AUThe University of Sydney · AUThe University of Western Australia · AUWomen's and Children's Hospital · AU

Funding

BioMarin Pharmaceutical Inc.
6 · The paper itself

Abstract

aimLate 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.

methodsWe 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.

resultsTwelve 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.

conclusionsEarly 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.

Indexed as

Neuronal Ceroid-LipofuscinosesAustraliaBrainChildChild, PreschoolElectroencephalographyHumansRetrospective StudiesTripeptidyl-Peptidase 1TPP1 protein, humanTripeptidyl-Peptidase 1cerebellar atrophycerebral atrophyceroid lipofuscinosis type 2 diseaseepilepsylanguage delaymagnetic resonance imaging

Identifiers

PMID32329550
PMCPMC7497200
OpenAlexW3018321139

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.