title: [Niemann-Pick type C disease: clinical presentations in pediatric patients].
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.
authors.affiliation: Service de Neurologie Pédiatrique, Centre de Référence des Maladies Lysosomales, Hôpital Trousseau, Paris, France. benedicte.heron@trs.aphp.fr
authors.forename: B
authors.initials: B
authors.lastname: Héron
authors.forename: H
authors.initials: H
authors.lastname: Ogier
mesh_terms: D002385:Cataplexy / Q000209:etiology; D002648:Child; D002779:Cholestasis / Q000209:etiology; D042241:Early Diagnosis; D006801:Humans; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis*; D013163:Splenomegaly / Q000209:etiology; D013494:Supranuclear Palsy, Progressive / Q000209:etiology