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Neuronal ceroid lipofuscinosis type 2: an Australian case series
Author(s) -
Johnson Alexandra M,
Mandelstam Simone,
Andrews Ian,
Boysen Katja,
YaplitoLee Joy,
Fietz Michael,
Nagarajan Lakshmi,
RodriguezCasero Victoria,
Ryan Monique M,
Smith Nicholas,
Scheffer Ingrid E,
Ellaway Carolyn
Publication year - 2020
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.14890
Subject(s) - medicine , neuronal ceroid lipofuscinosis , magnetic resonance imaging , neuroimaging , atrophy , corpus callosum , pediatrics , cortical blindness , pathology , disease , cerebral atrophy , dysarthria , radiology , psychiatry , blindness , optometry
Aim 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. Methods 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. Results 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. Conclusions 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.