Niemann Pick Disease Type C Severe Early Infantile Neurologic Onset C5680868
A severe lipid storage disorder causing progressive neurological damage in infants due to fat accumulation in cells. Affects infants. Treatment includes newer therapies and supportive care, though disease progression continues.
Key facts at a glance
- ICD-10
- E75.242
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Developmental regression
Vertical supranuclear gaze palsy
Cholestatic jaundice
(neurological)Hepatosplenomegaly
(gastrointestinal)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
Miglu
N-acetylglucosamine-1-phosphotransferase inhibitor that reduces lipid accumulation in cells. This disease-modifying therapy represents the primary pharmacologic approach for Niemann-Pick disease type C, helping to slow neurological deterioration.
Outpatient procedure with monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Comprehensive Neurological Monitoring
Regular neurological examinations, imaging studies, and developmental assessments to track disease progression and adjust management strategies. Includes periodic MRI scans and biomarker testing.
Additional treatment options
Anticonvulsant Therapy
Seizure management using appropriate anticonvulsant medications tailored to seizure type. Individualized approach based on EEG findings and seizure semiology.
medicationNeurodevelopmental Therapy
Early intervention physical and occupational therapy programs designed to maintain motor function, manage spasticity, and support developmental progress within individual capabilities.
physical_therapyNutritional Support
Specialized nutritional planning including dysphagia management, caloric supplementation as needed, and monitoring of growth parameters. May include tube feeding if oral intake becomes insufficient.
dietaryWhen 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 Niemann Pick Disease Type C Severe Early Infantile Neurologic Onset C5680868?
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.
Patterson MC, Mengel E, Vanier MT, et al. Niemann-Pick Disease Type C: Guidelines for Diagnosis and Clinical Management. Orphanet J Rare Dis. 2022.
Walkley SU, Davidson CD, Jacobsen JC, et al. Neuropathology and Cellular Pathology of Niemann-Pick Disease Type C. J Inherit Metab Dis. 2021.
Hastings C, Porter J, Thurberg BL, et al. Intravenous Trappsol Cyclodextrin in Patients with Niemann-Pick Disease Type C: A Phase I/II Clinical Trial. Mol Genet Metab. 2020.
Schulz A, MacKenzie N, Klein A, et al. Emerging Therapeutics for Neurodegenerative Lysosomal Storage Disorders: Focus on Niemann-Pick Type C Disease. Expert Opin Orphan Drugs. 2023.
Medication Comparisons
Compare medications used to treat Niemann Pick Disease Type C Severe Early Infantile Neurologic Onset C5680868. 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 20, 2026. · Read our editorial policy