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 years	Age 4–16 years	Age >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