Niemann-Pick type C disease: clinical presentations in pediatric patients

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
B Héron, H Ogier

Abstract

Niemann-Pick type C disease (NPC) is a rare, neurovisceral, autosomic recessive, lysosomal lipid storage disorder associated with impaired intracellular lipid trafficking leading to accumulation of cholesterol and glycosphingolipids in the brain, the liver, the spleen and also the lung. NPC has a very heterogenous clinical presentation from perinatal period to adulthood. The perinatal presentation is visceral. In the early-infantile, late-infantile and juvenile period, a wide range of aspecific and progressive neurologic symptoms varies according to the age at onset, but four signs have a great diagnostic value : prolonged neonatal cholestasis, splenomegaly, cataplexy and vertical supranuclear gaze palsy. The diagnosis confirmation requires a fibroblast culture and molecular genetic testing of NPC1 and NPC2 genes. The recent approval of a specific treatment, reducing neurological disease progression, makes essential an early diagnosis of NPC.

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Citations

Jun 9, 2012·Orphanet Journal of Rare Diseases·Bénédicte HéronMarie T Vanier
Jun 1, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Aneal KhanRobin Casey
Oct 17, 2017·Journal of Veterinary Science·Yoojin SeoKyung-Sun Kang

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