[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].
BACKGROUND
Niemann-Pick type C is a lysosomal storage disorder caused by a defect in intracellular trafficking of cholesterol. It is a rare disease, usually caused by mutations in NPC1 gene, but in some cases by mutations in NPC2 gene. Usually it is present in the paediatric age with a great variability of clinical manifestations. This disease leads to neurological degeneration with various age-related symptoms. Transient neonatal cholestasis, the appearance of splenomegaly and/or hepatomegaly may occur years before the neurological symptoms.


METHODS
We report 6 cases diagnosed in our unit in the last 20 years. We reviewed the clinical manifestations, neuroradiological findings (MRI) and molecular analysis of all of them.


RESULTS
The disease began before 6 years of age and 5 cases had liver dysfunction and cholestasis in the neonatal period. Ascites was detected in 2 cases in prenatal period. Five cases have or had splenomegaly. Mutations in NPC1 gene were detected in all of them.


CONCLUSIONS
It is important to understand this disease and the identification of early clinical symptoms to make an early diagnosis, leading to appropriate treatment and avoiding unnecessary tests. Moreover, it is important to suitably advise families and provide them with genetic counselling.
Fraile
P Quijada
PQ
Hospital Universitario 12 de Octubre, Madrid, España.
Hernández
E Martín
EM
Martínez de Aragón
A
A
Macias-Vidal
J
J
Coll
M J
MJ
Espert
A Nogales
AN
Silva
M T García
MT
D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D019636:Neurodegenerative Diseases / Q000209:etiology; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype