This is an abnormality of cholesterol esterification caused by mutations in NPC1 or NPC2.

Presentation is with prolonged jaundice, hepatomegaly and marked splenomegaly and foetal ascites. The liver disease resolves but splenomegaly increases.

Related posts:

13: Abdominal mass 27: Children with incidental abnormal liver biochemistry 41: Nutrition in neurodisability 47: Parenteral nutrition: weaning 33: Nutritional monitoring 40: Ingestion of non-food items (pica)

Stay updated, free articles. Join our Telegram channel

Join