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 1

Common differential diagnosis to the presenting symptoms of the NP-C at different age groups (2–6).

Age group	Presenting symptoms	Common differential diagnosis
Pre-/perinatal period (<3 mo)	Fetal hydrops	Chromosomal disorders; Congenital heart malformations; Hemoglobinopathies; Infectious diseases
	Prolonged neonatal cholestatic jaundice	Idiopathic neonatal hepatitis; Biliary atresia, galactosemia; Alpha 1 antitrypsin deficiency; Bile acid synthesis disorders; Cystic fibrosis, tyrosinemia type I; Byler disease; Peroxisomal disorders
Early infantile period (3 mon to <2 yrs) and late infantile period (2 to <6 yrs)	Isolated splenomegaly or hepatosplenomegaly	Mucopolysaccharidosis; Oligosaccharidosis, sphingolipidosis (Gaucher disease, Niemann-Pick A and B); Lipid storage disease (Wolman); Glycogen storage disorders
Late infantile period and juvenile period (6–15 yrs)	Dystonia	Respiratory chain disorders; Pyruvate dehydrogenase deficiency, vitamin E deficiency; Glucose transporter 1 deficiency; Homocystinuria, Wilson disease; Urea cycle defects; Organic aciduria
	Ataxia	Mitochondrial disorders; Friedreich’s ataxia, vitamin E deficiency, and autosomal recessive cerebellar ataxia (ARCA)
	Vertical supranuclear gaze palsy (VSGP)	Progressive supranuclear palsy; Multiple system atrophy; Dementia with Lewy bodies; Spinocerebellar ataxia, Tay-Sachs disease, Wilson disease, and vitamin B12 deficiency; Wernicke encephalopathy; Huntington’s disease; Creutzfeldt Jakob disease
	Gelastic cataplexy	Gelastic seizures; Narcoleptic tetrad
Juvenile period (6–15 yrs)	Psychosis	Hysteria, schizophrenia, and Wilson disease; Urea cycle defect; Acute intermittent porphyria; Cerebrotendinous xanthomatosis, homocystinuria