Overview
Niemann-Pick disease type C (NPC) with severe early infantile neurologic onset is a rare, progressive lysosomal storage disorder caused by mutations in the NPC1 gene (approximately 95% of cases) or the NPC2 gene (approximately 5% of cases). These mutations impair intracellular lipid trafficking, leading to the accumulation of unesterified cholesterol and glycosphingolipids in lysosomes and late endosomes of cells throughout the body. This particular subtype is characterized by the earliest and most severe neurologic involvement, distinguishing it from later-onset forms of NPC. In the severe early infantile neurologic onset form, symptoms typically appear before age two and progress rapidly. Affected infants may present with hypotonia (decreased muscle tone), developmental delay or regression of previously acquired milestones, hepatosplenomegaly (enlargement of the liver and spleen), and feeding difficulties. Neurological deterioration is prominent and may include progressive loss of motor skills, cerebellar ataxia, dysphagia, dysarthria, and seizures. Vertical supranuclear gaze palsy (VSGP), a hallmark feature of NPC, may also be present. The central nervous system, liver, spleen, and lungs are the primary organ systems affected. Many infants with this form also have a history of prolonged neonatal jaundice or fetal hydrops. The prognosis for this severe early infantile form is poor, with rapid neurological decline and significantly shortened life expectancy, often with death occurring in early childhood. Miglustat (Zavesca) is the only disease-specific therapy approved in some countries for NPC; it acts as a substrate reduction therapy by inhibiting glucosylceramide synthase, and may help stabilize or slow certain neurological manifestations, though its efficacy in the most severe early-onset forms is limited. Arimoclomol has also been investigated in clinical trials. Management is otherwise supportive and multidisciplinary, addressing nutritional needs, seizure control, respiratory complications, and physical therapy.
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Niemann-Pick disease type C, severe early infantile neurologic onset.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Niemann-Pick disease type C, severe early infantile neurologic onset.
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Common questions about Niemann-Pick disease type C, severe early infantile neurologic onset
What is Niemann-Pick disease type C, severe early infantile neurologic onset?
Niemann-Pick disease type C (NPC) with severe early infantile neurologic onset is a rare, progressive lysosomal storage disorder caused by mutations in the NPC1 gene (approximately 95% of cases) or the NPC2 gene (approximately 5% of cases). These mutations impair intracellular lipid trafficking, leading to the accumulation of unesterified cholesterol and glycosphingolipids in lysosomes and late endosomes of cells throughout the body. This particular subtype is characterized by the earliest and most severe neurologic involvement, distinguishing it from later-onset forms of NPC. In the severe e
How is Niemann-Pick disease type C, severe early infantile neurologic onset inherited?
Niemann-Pick disease type C, severe early infantile neurologic onset follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Niemann-Pick disease type C, severe early infantile neurologic onset typically begin?
Typical onset of Niemann-Pick disease type C, severe early infantile neurologic onset is infantile. Age of onset can vary across affected individuals.