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DOI: 10.1055/s-0040-1715575
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India
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Abstract
Neuronal ceroid Lipofuscinosis (NCL), inherited disorders of lysosomal storage disorders, constitute the most common progressive encephalopathies with an incidence of 1.3 to 7 in 100,000 live births. We reported clinical, electrophysiological, radiological, ultrastructural, and molecular genetic features of NCL. This is a retrospective review, in a tertiary care center from January 2016 to December 2019. All children with clinical features of NCL and confirmed by pathogenic mutation and/or enzyme assay were included. A total of 60 children (male:female = 3:1) were studied. The commonest type was CLN 2 (41.7%). Neuroregression, seizures, and ataxia were present in all cases. Retinal arterial attenuation was seen in 38.33% cases. Magnetic resonance imaging (MRI) brain was abnormal in all patients, thalamic and caudate nucleus atrophy common in CLN1 (62%). Electroencephalography was abnormal in all children, but photoparoxysmal response at low intermittent photic stimulation frequencies was seen in four children of CLN2. Electron microscopy done in 43 children revealed abnormal inclusions in 20 (46.52%) children. Enzyme study showed low levels in 36 (78%) out of 46 cases. Of these, 21 had low tripeptidyl peptidase and 15 had low palmitoyl protein thioesterase levels. Molecular testing done in 26 cases showed pathogenic variant in 23 (88%) cases. Infantile onset with thalamic atrophy on MRI is common in CLN1 and refractory epilepsy, visual impairment and specific EEG changes are common in CLN2. These features are helpful in selecting enzyme assay for CLN1 versus CLN2. Electron microscopy helped in the diagnosis and genetic testing in subtyping. Thus, a multimode approach played a role in the diagnosis of NCL.
Keywords
cerebellar atrophy - CLN genetic loci - involuntary movements - myoclonic epilepsy - neuronal ceroid lipofuscinoses - neuroregressionAuthors' Contributions
V.K.G. dedicated in supervision, guidance, and reviewing the manuscript. H.V. and K.S. were involved in the management of the child and the preparation of the manuscript. V.M.S. supported in the collection of data and the preparation of the manuscript. G.N. and R.S. were involved in diagnosis and final manuscript preparation. M.B., S.B., and M.R.N. provided valuable inputs in the diagnosis and final manuscript preparation.
Publikationsverlauf
Eingereicht: 12. Mai 2020
Angenommen: 08. Juli 2020
Artikel online veröffentlicht:
04. August 2020
© 2020. Thieme. All rights reserved.
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