Movement Disorders in Neuronal Ceroid Lipofuscinosis Type 2

8th International Symposium on Paediatric movement disorders, Barcelona, İspanya, 8 - 10 Şubat 2024, (Yayınlanmadı)

Introduction

Neuronal Ceroid Lipofuscinosis (NCL) Type 2 is a rare lysosomal storage disorder

associated with variants in CLN2 gene which encodes a soluble lysosomal protein,

tripeptidyl peptidase-1. CLN2 disease presents between two and four years of age

with speech delay, loss of developmental milestones beginning in the second year of

life, followed by the development of refractory epilepsy. Patients with CLN2 disease

generally have ataxia, refractory nonepileptic myoclonus, and spastic quadriparesis.

Methods

Here, we present two patients with CLN2 disease who developed dystonia and

choreathetosis during follow up. Their first presentations were typical for CLN2

disease with developmental regression and epilepsy, and the diagnoses were

genetically confirmed.

Results (Cases)

First patient is a 5.5-year-old boy who was diagnosed with epilepsy at 2 years,

developed ataxia and was diagnosed with CLN2 disease at the age of 3.5 years. He

could not receive enzyme treatment due to payment issues. He has prominent

choreoathetosis and lower extremity dystonia, especially increasing during

infections. (video)

Second patient is a 7.5-year-old girl who was diagnosed with global developmental

delay and epilepsy at 2.5 years. Family history revealed a cousin deceased due to

CLN2 disease. She has been receiving cerliponase alfa treatment with Ommaya

catheter every two weeks for 3 years. She has recently developed limb dystonia.

(video)

Conclusions

Movement disorders such as dystonia and chorea are rarely reported and easily

overlooked in the complex CLN2 disease symptomatology.