sayar, ersin konya eğitim ve araştırma hastanesi - çocuk sağlığı ve hastalıkları kliniği, Konya, Turkey , baştürk, ahmet akdeniz üniversitesi - pediatrik gastroenteroloji bd, Antalya, Turkey , yılmaz, aygen akdeniz üniversitesi - pediatrik gastroenteroloji bd, Antalya, Turkey , artan, reha akdeniz üniversitesi - pediatrik gastroenteroloji bd, Antalya, turkey

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

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tamin 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.

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Niemann , pick type a , vitamin K , bleeding , cholestasis

Pamukkale Medical Journal

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