Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report

Introduction

Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the many types of NCLs, which are a group of inherited neurodegenerative lysosomal storage disorders. Type 3, the classic and most common form, is caused by homozygous or compound heterozygous pathogenic variants in the CLN3 gene that encodes a lysosomal transmembrane protein. This yields in unbalanced cellular homeostasis and increased neuronal loss, as the physiological protein is predicted to be a pH regulator and modulator of vesicular transport and fusion [1]. Clinical symptoms mostly present between 5 – 10 years of age and manifest as progressive vision loss and, rarely, seizures. Cognitive and behavioural impairment is thought to appear a few years after the onset of visual impairment [1]. This is, however, not always the case. The aim of this case report is to describe the unusual phenotypic presentation of juvenile NCL3 in a patient of Swiss descent.

Publication History

Received: 26 October 2023

Accepted: 04 December 2023

Article published online:
23 April 2024

• References

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