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Early signs shouldn’t be ignored

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

Talk to your doctor if these signs sound familiar.

Early physical signs in infancy may be easy to dismiss, but they can be early indicators of Niemann-Pick type C, or NPC.1

PHYSICAL SIGNS IN INFANCY

Yellowing of the skin and eyes (jaundice) that lasts longer than usual and an enlarged spleen and/or liver after birth often resolve on their own.1-3

However, these can be early signs of NPC, a rare, inherited condition that affects the brain, nervous system, and other parts of the body over time. As infants with NPC get older, the persistent jaundice or enlarged organs may resolve, but neurological signs may appear and get worse over time.1,3

When neurological symptoms begin before age 6, the condition is referred to as infantile-onset NPC. NPC is estimated to occur in about 950 people in the United States, though many cases go unrecognized. An estimated half of individuals with NPC have infantile-onset NPC.3-5

Not a real patient

Signs of infantile-onset NPC in children

NPC can show up differently depending on a child’s age.3

Neurological symptoms that begin before the child turns 2 years old

EARLY SIGNS IN THE BODY:
  • Yellowing of the skin and eyes in newborns that lasts longer than usual
  • Enlarged spleen and/or liver
  • Buildup in the lungs and/or breathing problems
NEUROLOGICAL SYMPTOMS FOLLOW:
  • Low muscle tone
  • Inability to move the eyes up and down
  • Delayed or loss of previously acquired milestones
  • Speech delay
  • Difficulty swallowing
  • Muscle stiffness

Neurological symptoms that begin between ages 2 and 6

History of earlier signs:
  • Yellowing of the skin and eyes in newborns that lasts longer than usual
  • Enlarged spleen and/or liver
  • Buildup in the lungs and/or breathing problems
Neurological symptoms follow:
  • Inability to move the eyes up and down
  • Difficulty moving the eyes up and down quickly
  • Sudden muscle weakness brought on by emotion or laughter
  • Delayed or loss of previously acquired milestones
  • Speech delay
  • Loss of coordination and balance
  • Frequent falls and clumsiness
  • Muscles tightening or pulling involuntarily, causing twisting or abnormal posture
  • Trouble speaking clearly
  • Difficulty swallowing
  • Hearing impairment related to NPC
  • Seizures

Don’t wait to act

Even if early signs seem mild or temporary, they deserve a closer look. Waiting too long may cause delays in finding answers.6

Comprehensive genetic testing through an NPC-inclusive gene panel, whole exome sequencing (WES), or whole genome sequencing (WGS) provides the most complete diagnostic approach for NPC.3,7,8

Luiz Felipe_
2 years old_living with NPC_ and dad_Tiago

Luiz Felipe,

2 years old, living with NPC,
and dad, Tiago.

Don't delay getting answers

Use this symptom checklist to help understand whether what you're seeing could be signs of NPC.

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References: 1. 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.2021.10087 2. Geberhiwot T, Moro A, Dardis A, et al. Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. Orphanet J Rare Dis. 2018;13(1):50. doi:10.1186/s13023-018-0785-7 3. 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 4. 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 5. Bolton SC, Soran V, Marfa MP, et al. Clinical disease characteristics of patients with Niemann-Pick disease type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet J Rare Dis. 2022;17(1):51. doi:10.1186/s13023-022-02200-4 6. Mengel E, Klünemann HH, Lourenço CM, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8:166. doi:10.1186/1750-1172-8-166 7. Bremova-Ertl T, Patterson M. Niemann-Pick disease type C. In: Adam MP, Bick S, Mirzaa GM, et al, eds. GeneReviews® [Internet]. Updated November 20, 2025. Accessed August 10, 2026. https://www.ncbi.nlm.nih.gov/books/NBK1296/ 8. 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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