Niemann-Pick disease type C
Niemann-Pick disease type c (NPD-C or just NPC) is an autosomal recessive lysosomal storage disorder classed under Niemann-Pick disease on account of clinical similarities, namely hepatosplenomegaly and variable involvement of the central nervous system.
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Epidemiology
NPD-C is inherited as an autosomal recessive disorder with an estimated minimal incidence of 1/120 000 live births 2.
Clinical presentation
NPD-C has a variable age of presentation, ranging for the neonatal period into adulthood.
- hepatobiliary signs/symptoms 2
- neonatal presentation: cholestatic liver failure
- infancy and childhood presentation: hepatosplenomegaly
- neurological signs / symptoms 2
- neonatal and infant presentation: delayed development milestones
- childhood presentation: ataxia, falls, poor school performance
- adolescent and adult presentation: psychiatric illnesses, ataxia
Radiographic features
Radiographic features are limited, and MRI is the modality of choice.
MRI
Reported abnormalities include:
- cerebral (particularly frontal lobe) and cerebellar atrophy 2-3.
- white matter high T2 signal, particularly parieto-occipital periventricular regions 3
- deep grey matter and hippocampal atrophy (reported in the adult-onset patient) 4
- reduced midbrain to pons ratio (not as marked as in progressive supranuclear palsy (PSP)) 5
Treatment and prognosis
Unfortunately, to date, there is no disease-modifying treatment available and management address individual symptoms (e.g. antiepileptics for seizure control).
Although invariable NPD-C leads to premature death, in almost all cases before the age of 50 years of age, the rate of progression is highly variable.
Age of onset of systemic (e.g. hepatosplenomegaly) is not a good predictor, whereas the age at which neurological impairment becomes evident does correlate with survival: the earlier the onset of neurological signs and symptoms, the shorter the life expectancy 2.
Related Radiopaedia articles
Inborn errors of metabolism
- disorders of carbohydrate metabolism
- disorders of amino acid metabolism
- disorders of the urea cycle
- disorders of organic acid metabolism
- disorders of fatty acid oxidation and mitochondrial metabolism
- disorders of porphyrin metabolism
- disorders of purine or pyrimidine metabolism
- disorders of steroid metabolism
- disorders of mitochondrial function
- disorders of peroxisomal function
-
lysosomal storage disorders
- alpha-mannosidosis
- aspartylglucosaminuria
- cholesteryl ester storage disease
- chronic hexosaminidase A deficiency
- cystinosis
- Danon disease
- Fabry disease
- Farber disease
- fucosidosis
- galactosialidosis
- Gaucher disease
- GM1 gangliosidoses
- GM2 gangliosidoses
- I-cell disease/mucolipidosis II
- infantile free sialic acid storage disease
- juvenile hexosaminidase A deficiency
- Krabbe disease
- lysosomal acid lipase deficiency
- metachromatic leukodystrophy
- mucopolysaccharidoses
- multiple sulfatase deficiency
- Niemann-Pick disease
-
neuronal ceroid lipofuscinoses
- CLN6 disease
- Batten-Spielmeyer-Vogt disease
- Finnish Variant Late Infantile CLN5
- Jansky-Bielschowsky disease
- Kufs disease
- northern epilepsy
- Santavuori-Haltia disease
- beta-mannosidosis
- Pompe disease
- pycnodysostosis
- Schindler disease
- Salla disease
- Wolman disease