Niemann-pick type a: A rare case presenting with late onset bleeding due to Vitamin K deficiency

Vitamin k deficiency bleeding (vkdb) is seen rarely and it may be life-threatening during early infancy. vkdb is classified according to bleeding times as early (0-1 day), classical (1-7 days) and late (8 days to 6 months). undiagnosed cholestasis is usually present in the late type in which the bleeding commonly starts in 3-8 weeks. niemann pick disease is a type of lysosomal storage disease associated with special storage cells which are very similar to foamy histiocytes which occurs due to sphingomyelin build-up. it’s known that cholestasis may develop and go away on its own among new-born with type a or c of the disease. pt and aptt were prolonged in 2-month-old patient who presented with umbilical bleeding which happened three times after 1 - month-old. cholestasis was investigated and diagnosed which is a risk factor for late type vkdb. bleeding had not repeated after vitamin k administration. the patient was diagnosed with niemann-pick type a by showing a new homozygos mutation in smpd1 gene after advanced investigations because of liver and spleen enlargement despite cholestasis was regressing during follow-up. this article is presenting a rare case diagnosed with niemann-pick type a for the first time presented with umbilical bleeding due to vitamin k deficiency.