A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).

ABSTRACT:

Background

Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged <4 years.

Methods

An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom.

Results

Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nerv

SUBMITTER: Pineda M 

PROVIDER: S-EPMC4957867 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature