Nelson Textbook of Pediatrics 22nd Ed β Section 106.4. Types A/B (sphingomyelinase deficiency, SMPD1). Type C (NPC1/NPC2, cholesterol trafficking). Hepatosplenomegaly, cherry-red spot (type A), foam cells, vertical supranuclear gaze palsy (type C). Treatment: miglustat for NPC, ERT for type B (olipudase alfa).
π paeds.online β Pakistan's Pediatric Platform