Neuronal Ceroid Lipofuscinosis 2 C1876161
A form of Batten disease caused by TPP1 enzyme deficiency, leading to progressive neurological deterioration in children. Onset is usually in early childhood with a fatal outcome.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Seizures
Vision loss
Ataxia
(neurologic)Developmental regression
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Seizure management
Individualized anticonvulsant medication regimen based on documented seizure types. Regular review and adjustment of therapy as disease phenotype evolves over time.
Multidisciplinary disease monitoring
Regular coordinated assessments including neurology, ophthalmology, genetics, and developmental pediatrics to comprehensively track disease progression and emerging needs.
Additional treatment options
Feeding and swallowing management
Regular swallowing assessments and dietary modifications to address dysphagia. May progress from oral feeding to enteral nutrition to prevent aspiration and maintain nutrition.
dietaryCaregiver support and respite services
Comprehensive support for family caregivers including respite care, counseling, and education about disease progression. Connection to Battens disease support organizations.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Neuronal Ceroid Lipofuscinosis 2 C1876161?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Williams RE, Adams HR, Blohm M, et al. Management strategies for CLN2 disease. Orphanet J Rare Dis. 2021.
Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2019;1852(10):2237-2241.
Schulz A, Ajayi T, Specchio N, et al. Study of intraventricular enzyme replacement therapy for CLN2. N Engl J Med. 2022;387(9):835-843.
Kohan R, Pesaola F, Grinberg S, Dodelson de Kremer R. Enzyme therapy outcomes in neuronal ceroid lipofuscinoses: systematic review. Mol Genet Metab. 2023;139(3):107542.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy