Rare Diseases

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"Neuronal Ceroid Lipofuscinosis Type 2 (cln2)" search results...

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

2022-08-31

This article reports a rare case of neuronal ceroid lipofuscinosis type 2 (CLN2) caused by two novel variants of TPP1.

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

CLN2

Unraveling neuronal ceroid lipofuscinosis type 2

2021-06-04

In this study, the majority of the patients presented with late-infantile onset seizures. Despite improved access to enzymatic and molecular testing, there is still a significant diagnostic delay

CLN2

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease

2021-04-01

The data of this study support the inclusion of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in the differential diagnosis of children who have seizures, behavioural disorders, or language abnormalities. Early diagnosis will allow early initiation of specific treatments.

CLN2

MRI in CLN2 disease patients: Subtle features that support an early Diagnosis

2020-09-28

The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians. Any of the mentioned features on MRI in this article should raise clinical suspicion to test for CLN2 disease.

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