International Journal of Pediatrics / 2015 / Article / Tab 4

Review Article

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.