Neurometabolic Disease, Paediatric Neurology
Efficient Investigation and Differential Diagnosis of Childhood Onset Niemann-Pick Type C
Alasdair Parker
Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder occurring in all ethnic groups, with an estimated minimal incidence of 0.82 per 100,000 live births.1 This figure is likely to be an underestimation due to failure to recognise the clinical characteristics and initiate appropriate tests. NPC is a devastating disorder, characterised by […]