A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Neuronal Ceroid Lipofuscinosis (NCL) encompasses a group of rare genetic neurodegenerative disorders.
• CLN1 disease, typically presenting in infancy, has an atypical juvenile-onset variant with later neurological decline and epilepsy.
• Epilepsy management in juvenile CLN1 can be complex, with potential for severe seizures and treatment-related side effects.

Observation:

• A case of juvenile CLN1 disease is presented in a female patient with cognitive and neurological regression starting at 5.5 years.
• The patient experienced a severe epilepsy phenotype, including focal seizures, status epilepticus, and epilepsia partialis continua.
• Refractory status epilepticus led to significant bradycardia during levetiracetam infusion, indicating a potential adverse drug reaction.

Findings:

• Diagnosis was established at age 12 via palmitoyl protein-thioesterase (PPT) enzyme deficiency and genetic confirmation of a homozygous mutation in the CLN1 gene (PPT1, c.541G>A, p.Val181Met).
• The patient's epilepsy was refractory, requiring intensive management.
• Levetiracetam administration was associated with significant bradycardia during status epilepticus treatment.

Implications:

• This case underscores the importance of considering atypical CLN1 disease in children with progressive neurological decline and refractory epilepsy.
• The management of status epilepticus in juvenile CLN1 requires careful monitoring for severe pharmacologic side effects.
• Early and accurate diagnosis is crucial for appropriate patient care and potential future therapeutic interventions in CLN1 disease.