Niemann Pick Disease Type D C0268247
A rare lysosomal storage disorder affecting the nervous system, causing progressive neurological decline. Primarily impacts children and currently has limited treatments, focusing on symptom management and supportive care.
Key facts at a glance
- ICD-10
- E88.9
- 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
Cognitive decline
(neurological)Vertical supranuclear gaze palsy
(neurological)Cataplexy
(neurological)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Miglustat therapy
Substrate reduction therapy targeting the underlying glycolipid accumulation defect in Niemann-Pick type D, slowing neurological deterioration when initiated early.
Ophthalmological surveillance
Regular vertical supranuclear gaze palsy assessment and visual function testing to monitor disease progression and guide management decisions.
Additional treatment options
Surgical intervention for splenomegaly
Partial splenectomy or other surgical approaches to manage severe splenomegaly causing discomfort, cytopenias, or risk of rupture.
surgicalCaloric and metabolic supplementation
Enhanced nutritional support with attention to metabolic demands, often including protein supplementation to prevent cachexia.
dietaryIntegrative supportive care
Complementary approaches including massage therapy and acupuncture for symptom management, particularly for pain and spasticity associated with neurological decline.
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 D C0268247?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Niemann Pick Disease Type D C0268247. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy