Neuronal ceroid lipofuscinosis type 2: an Australian case series.

ABSTRACT:

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

SUBMITTER: Johnson AM 

PROVIDER: S-EPMC7497200 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature