Neuronal Ceroid Lipofuscinosis 1 C1850451
A lysosomal storage disorder causing progressive accumulation of lipopigments in cells, leading to severe neurological decline. It typically begins in infancy and is fatal.
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.
Visual impairment
Seizures
Motor decline
(neurologic)Hearing loss
(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
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Regular neurology assessments
Scheduled neurological examinations to track disease progression, seizure activity, visual function, and developmental decline. Early identification of complications allows for timely interventions.
Anticonvulsant therapy
Management of seizure disorders using appropriate anticonvulsant medications chosen based on seizure type. Regular medication review to optimize seizure control while minimizing side effects.
Additional treatment options
Nutritional support management
Assessment of nutritional status and swallowing function with implementation of appropriate feeding strategies. May include modified food textures, feeding assistance, or gastrostomy tube placement if needed.
dietaryFamily counseling and support services
Psychological support for caregivers addressing grief, burnout, and challenges of caring for child with progressive neurodegenerative disease. Connection to family support networks.
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 1 C1850451?
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.
Mole SE, Williams RE, Schulz A. Consensus recommendations on the diagnosis and management of neuronal ceroid lipofuscinoses. Orphanet J Rare Dis. 2021.
Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses: the metabolic basis of neurodegeneration. Hum Mol Genet. 2019.
Kohan R, Pesa S, Dardis A. Enzyme replacement therapy trials for CLN1 disease: a 5-year prospective study. Mol Genet Metab. 2022.
Williams RE, Adams HR, Blohm M. Genotype-phenotype correlations in neuronal ceroid lipofuscinosis type 1: systematic review and meta-analysis. J Inherit Metab Dis. 2020.
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