Neuronal ceroid lipofuscinosis type 2 disease in a 4-year-old child with epilepsy and concerns for stuttering

Abstract

Background

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative neuronal lysosomal storage disease associated with ataxia, seizures, vision loss, and clinical deterioration. Early diagnosis is of crucial importance to initiate early treatment with intraventricular enzyme replacement therapy. Though seizures are typically the first presenting symptom associated with CLN2, recent research suggests that language and speech delays may precede seizures.

Case presentation

Our case is a 4-year-old child with epilepsy who presented to our neurodevelopmental clinic with stuttering. Prior to his epilepsy diagnosis at approximately 41 months of age, the child demonstrated delayed early language milestones during infancy. Genetic and enzymatic testing confirmed the diagnosis of CLN2. We discuss his overall clinical presentation and current research regarding speech and language delays in CLN2.

Conclusion

There is emerging evidence that stuttering may be one of the early speech and language characterizations of children with CLN2. Our case supports this emerging evidence and may direct clinicians to recognize speech production differences as an early presentation of CLN2.