International Journal of Pediatrics / 2015 / Article / Tab 3

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 3

Manifestations of NP-C disease by age group [10].

Age <4 yearsAge 4–16 yearsAge >16 years

Splenomegaly (>50%)
Prolonged neonatal unexplained or cholestasis jaundice (>50%)
Delay of the developmental milestones (>50%)
Infantile hypotonia
Dystonia
Dysarthria/dysphagia
Dystonia
Vertical supranuclear gaze palsy
Dysarthria/dysphagia
Seizure, delayed development milestones, gelastic cataplexy, and ataxia
Cognitive decline
Splenomegaly
Vertical supranuclear gaze palsy
Dystonia, dysarthria/dysphagia
Ataxia
Cognitive decline
Psychotic symptoms, treatment-resistant psychiatric symptoms, disruptive or aggressive behavior, and other psychiatric disorders

Majority of domain symptoms
Visceral + neurological
Majority of domain symptoms
Neurological + psychiatric.
Visceral + neurological
Visceral + psychiatric
Majority of domain symptoms
Psychiatric + neurological