Congenital CLN disease in two siblings

Area of Science:

• Pediatric Neurology
• Genetics
• Neurodegenerative Diseases

Background:

• Neuronal ceroid lipofuscinoses (NCL) comprise ten distinct childhood neurodegenerative diseases.
• NCL is characterized by retinopathy, dementia, and epilepsy.
• It is the most common group of neurodegenerative disorders in children.

Observation:

• This case report details two neonates with infantile NCL (CLN 10).
• The neonates presented with immediate post-natal intractable seizures and respiratory insufficiency.
• Clinical, radiological, and pathological findings characteristic of CLN 10 were observed.

Findings:

• CLN 10 disease presents with severe, refractory epilepsy and respiratory failure in neonates.
• Characteristic clinical, radiological, and pathological findings aid in diagnosis.
• The disease course is severe and treatment options are limited.

Implications:

• CLN 10 should be considered in the differential diagnosis of newborns with severe epilepsy and respiratory distress.
• The severity and poor prognosis of CLN 10 raise significant ethical considerations in neonatal care.
• Timely diagnosis is critical for appropriate patient management and family counseling.