Niemann Pick Disease Type C Late Infantile Neurologic Onset C5680867
A rare genetic disease where lipids accumulate in cells, causing early childhood neurological deterioration. Affects movement, cognition, and organ function. Treatment aims to manage symptoms.
Key facts at a glance
- ICD-10
- E75.242
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental regression
(developmental)Spasticity
(neurological)Hepatosplenomegaly
(hepatobiliary)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
Miglustat therapy
Early initiation of miglustat therapy is particularly important in late-infantile onset cases due to rapid disease progression. Treatment aims to reduce substrate accumulation and slow neurodegeneration.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention developmental therapy
Intensive early childhood intervention programs combining physical, occupational, and speech therapy to maximize functional abilities and slow regression of motor and communication skills.
Additional treatment options
Seizure management
Aggressive seizure control is crucial in late-infantile NPC as seizures can significantly impact quality of life and accelerate cognitive decline. Multiple medications may be required.
medicationEnteral nutrition support
As swallowing difficulties progress, placement of feeding tubes (G-tube) may be necessary to maintain adequate nutrition and hydration while preventing aspiration risks.
dietaryExperimental therapy enrollment
Clinical trial participation for novel NPC therapies including gene therapy approaches, substrate reduction therapies, and neuroprotective compounds under investigation.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Niemann Pick Disease Type C Late Infantile Neurologic Onset C5680867?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy