Differential diagnosis of Niemann-Pick type C disease
The differential diagnosis of Niemann-Pick type C disease (NP-C) is broad due to its wide-ranging clinical presentation.1 The common visceral symptoms such as neonatal jaundice, isolated splenomegaly or hepatosplenomegaly and neurological signs seen in patients with NP-C can also arise in other diseases caused by inborn errors of metabolism. These include Sandhoff disease, Gaucher disease type 3 (GD3) and ASM-deficient Niemann-Pick disease.2
Other diseases to be aware of and assess for differential diagnosis include:2
- Wilson's disease and some other metal storage disorders;
- idiopathic neonatal hepatitis and other causes of cholestatic jaundice;
- ASM deficiency;
- psychosis, bipolar disorder, depression, atypical schizophreniform disorders and/or other psychiatric signs including attention deficit disorder, Asperger-like presentations and a dysexecutive syndrome;
- Huntington's disease (HD), Gerstmann–Sträussler–Scheinker syndrome or progressive supranuclear gaze palsy (PSP).
In order to reach a fast and differential diagnosis of NP-C, it is important for healthcare professionals to link together the visceral, neurological and psychiatric symptoms that a patient might present with.
- Wraith E, Baumgartner M, Bembi B et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Gen Metab 2009;98:152–165.
- Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.
- Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560-7.