Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

Table 4

Association of manifestations by the presence and absence of leading NP-C manifestations (ataxia, cognitive decline, psychosis, and splenomegaly) at age >4 years [10].

With ataxia (a moderate indicator)	With psychosis (a moderate indicator)	With cognitive decline (a strong indicator)	With splenomegaly (a strong indicator)
Dystonia, dysarthria/dysphagia; Cognitive decline; (i) Patients without ataxia show increase frequency of VSGP and cognitive decline	Treatment-resistant psychiatric symptoms; Dysarthria/dysphagia; Dystonia; (i) Patient presentation without psychosis shows increase in frequency of VSGP, cognitive decline, dysarthria/dysphagia, and ataxia	Psychotic symptoms; Treatment-resistant psychiatric symptoms (slightly elevated); Ataxia; Gelastic cataplexy; Dystonia and seizures; (i) The patients without symptoms of cognitive decline show increased frequency of other types of psychiatric disorders	There is little difference; (i) Patient’s presentation without splenomegaly shows a slight increase in tendency of prolonged neonatal jaundice, ataxia, and dysarthria/dysphagia

VSGP: vertical supranuclear gaze palsy.