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Early visceral signs may be linked to NPC1,2

Luiz Felipe,
2 years old, living with infantile-onset NPC, and mom, Mariana.

Certain early physical findings may be associated with infantile-onset Niemann-Pick disease, type C (NPC), even before neurological symptoms appear.1,2

Don’t overlook persistent neonatal conditions

Prolonged neonatal cholestatic jaundice and splenomegaly (current or historical) with or without hepatomegaly in newborns are often attributed to transient or infectious causes.1-3

However, these visceral findings may be early signs of NPC, a rare, progressive, autosomal-recessive, neurodegenerative disorder that is estimated to occur in about 1 in 89,000 births in the United States, though it is likely underdiagnosed. Other visceral symptoms of NPC may include fetal ascites/hydrops and pulmonary disease.1,4,5

When neurological symptoms begin before age 6, the condition is referred to as infantile-onset NPC. Infantile-onset NPC represents the most aggressive form of the disease, with earlier neurological symptom onset predicting more rapid disease progression and earlier death. Without further evaluation, there is a risk of missing infantile-onset NPC.1,2,4

Caregiver helping young boy with jacket – HCP visceral symptoms

As children with NPC get older, progressive neurological symptoms may emerge2

Neurological symptoms begin before 2 years of age.1

NEUROLOGICAL SYMPTOMS
  • Central hypotonia
  • Vertical supranuclear gaze palsy (VSGP)
  • Delay or regression in developmental milestones
  • Speech delay
  • Dysphagia
  • Spasticity

Neurological symptoms begin between 2 and 6 years of age. Children tend to present with neurological symptoms first, often accompanied by current or historical visceral findings.1

NEUROLOGICAL SYMPTOMS
  • Vertical supranuclear gaze palsy (VSGP)
  • Vertical supranuclear saccadic palsy (VSSP)
  • Gelastic cataplexy
  • Delay or regression in developmental milestones
  • Speech delay
  • Progressive ataxia and/or frequent falls and clumsiness
  • Dystonia
  • Dysarthria
  • Dysphagia
  • Sensorineural hearing loss
  • Seizures

Don’t wait to act

Early diagnosis by genetic testing can enable early intervention that may slow disease progression before irreversible damage occurs.1,5,6

ORDER GENETIC TESTING AT NO COST

Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.

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References: 1. Hiwot T, Porter FD, Bremova-Ertl T, et al. 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. J Inherit Metab Dis. 2026;49(3):e70185. doi:10.1002/jimd.70185 2. Berry-Kravis E. Niemann-Pick disease, type C: diagnosis, management and disease-targeted therapies in development. Semin Pediatr Neurol. 2021;37:100879. doi:10.1016/j.spen.2021.100879 3. Fawaz R, Baumann U, Ekong U, et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2017;64(1):154-168. doi:10.1097/MPG.0000000000001334 4. Pineda M, Mengel E, Jahnová H, et al. A suspicion index to aid screening of early-onset Niemann-Pick disease type C (NP-C). BMC Pediatr. 2016;16:107. doi:10.1186/s12887-016-0641-7 5. Burton BK, Ellis AG, Orr B, et al. Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States. Mol Genet Metab. 2021;134(1-2):182-187. doi:10.1016/j.ymgme.2021.06.011 6. Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract. 2017;7(6):499-511. doi:10.1212/CPJ.0000000000000399

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