Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare autosomal recessive lysosomal storage disease.

This neurodegenerative disorder presents between ages 2 and 4 years with psychomo...

Usually a delay in diagnosis due to the lack of disease awareness and the presence of nonspecific initial symptoms.

In 82% of cases, there is a ≥1 year delay in referral to NCL specialist.

Cla...

Mainstay of treatment: symptom control and quality of life improvement.

Seizures

• Family and caregivers at home and school should have an emergency seizure management plan inclu...

Patients need lifelong super...

Breau  LM, Burkitt  C. Assessing pain in children with intellectual disabilities. Pain Res Manag.  2009;14(2):116–120. [View Abstract on OvidMedline]...

42012007 Neuronal ceroid lipofuscinosis

14637005 Late-infantile neuronal ceroid lipofuscinosis

58258004 Infantile neuronal ceroid lipofuscinosis

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CLN2, an autosomal recessive disorder due to lysosomal deficiency of TPP1, usually presents between ages 2 and 4.

Symptoms: seizures, developmental regression, vision deterioration, and...