International Journal of Pediatrics / 2015 / Article / Tab 1

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 1

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

Age groupPresenting symptomsCommon differential diagnosis

Pre-/perinatal period (<3 mo)Fetal hydropsChromosomal disorders
Congenital heart malformations
Infectious diseases
Prolonged neonatal cholestatic jaundiceIdiopathic 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 hepatosplenomegalyMucopolysaccharidosis
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) DystoniaRespiratory chain disorders
Pyruvate dehydrogenase deficiency, vitamin E deficiency
Glucose transporter 1 deficiency
Homocystinuria, Wilson disease
Urea cycle defects
Organic aciduria
AtaxiaMitochondrial 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 cataplexyGelastic seizures
Narcoleptic tetrad

Juvenile period (6–15 yrs)PsychosisHysteria, schizophrenia, and Wilson disease
Urea cycle defect
Acute intermittent porphyria
Cerebrotendinous xanthomatosis, homocystinuria