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Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease

Raymundo A. Quintana, MD, Adrian DaSilva-DeAbreu, MD and Gabriel M. Aisenberg, MD Reviewed 06/2019
 


BASICS

DESCRIPTION

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

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

DIAGNOSIS

  • Due to the lack of disease awareness and the presence of nonspecific initial symptoms, a delay of 2 to 3 years in diagnosis is common.

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

TREATMENT

GENERAL MEASURES

  • The mainstay of treatment of CLN2 disease is symptom control and quality of life improvement.

  • Seizures

    • Family and caregivers at home and school should have an emergency seizu...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

In patients receiving cerliponase alfa, CSF samples should be routinely analyzed for subclinical device infections. 

Patient Monitoring

  • CLN2 patients need lifelong ...

REFERENCES

1
Fietz M, AlSayed M, Burke D, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab....

ADDITIONAL READING

CODES

ICD10

E75.4 Neuronal ceroid lipofuscinosis 

ICD9

330.1 Cerebral lipidoses 

SNOMED

  • 42012007 Neuronal ceroid lipofuscinosis

  • 14637005 Late-infantile neuronal ceroid lipofuscinosis

  • 58258004 Infantile neuro...

CLINICAL PEARLS

  • CLN2 is an autosomal recessive disease that usually presents between ages 2 and 4 years.

  • This disorder is due to the lysosomal deficiency of TPP1.

  • Symptoms are usually seizures, developm...

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