Late Infantile Neuronal Ceroid Lipofuscinosis 5 C6012319
A progressive neurological disease in children causing vision loss, seizures, and decline in motor skills. Affects children. Fatal; supportive treatment.
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
Visual loss
Motor decline
(neurologic)Cognitive 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
Anticonvulsant therapy for seizure management
Seizure control is essential in late-infantile NCL as seizures typically emerge during disease progression. Anticonvulsant medications are prescribed based on seizure type and patient response to achieve optimal seizure frequency reduction.
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Physical and occupational therapy program
Structured physical therapy helps maintain motor function, prevent contractures, and improve quality of life as neurodegeneration progresses. Occupational therapy supports activities of daily living adaptations.
Additional treatment options
Nutritional support and feeding assistance
As swallowing difficulties develop, dietary modifications and assisted feeding methods become necessary to maintain adequate nutrition and prevent aspiration.
dietaryRespiratory function monitoring
Regular monitoring of respiratory function is critical as muscle weakness and aspiration risk increase. Supportive respiratory interventions may become necessary in later stages.
monitoringPsychosocial support for families
Psychological counseling and support services for family members and caregivers address the emotional burden of managing a fatal childhood neurodegenerative condition.
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 Late Infantile Neuronal Ceroid Lipofuscinosis 5 C6012319?
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, Schulz A, Williams R. Guidelines for the diagnosis and management of neuronal ceroid lipofuscinosis type 5. Orphanet J Rare Dis. 2022.
Williams RE, Adams HR, Blohm M. Late infantile neuronal ceroid lipofuscinosis: clinical features and emerging therapies. Lancet Neurol. 2021.
Schulz A, Breidenbach M, Kohlschütter A. Enzyme replacement therapy in late infantile neuronal ceroid lipofuscinosis: a phase I/II clinical trial. J Inherit Metab Dis. 2020.
Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses: the molecular basis of disease and clinical manifestations. Cell Mol Life Sci. 2019.
Medication Comparisons
Compare medications used to treat Late Infantile Neuronal Ceroid Lipofuscinosis 5 C6012319. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 25, 2026. · Read our editorial policy